{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T06:56:10Z","timestamp":1771656970569,"version":"3.50.1"},"reference-count":144,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T00:00:00Z","timestamp":1589414400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T00:00:00Z","timestamp":1589414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Curr Neurol Neurosci Rep"],"published-print":{"date-parts":[[2020,6]]},"DOI":"10.1007\/s11910-020-01034-6","type":"journal-article","created":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T18:01:03Z","timestamp":1589479263000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Update on Muscular Dystrophies with Focus on Novel Treatments and Biomarkers"],"prefix":"10.1007","volume":"20","author":[{"given":"Neil","family":"Datta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Partha S.","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,5,14]]},"reference":[{"key":"1034_CR1","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","volume":"17","author":"DJ Birnkrant","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17:251\u201367.","journal-title":"Lancet Neurol"},{"issue":"Suppl 2","key":"1034_CR2","doi-asserted-by":"publisher","first-page":"S5","DOI":"10.1542\/peds.2018-0333C","volume":"142","author":"F Leigh","year":"2018","unstructured":"Leigh F, Ferlini A, Biggar D, Bushby K, Finkel R, Morgenroth LP, et al. Neurology care, diagnostics, and emerging therapies of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142(Suppl 2):S5\u201316.","journal-title":"Pediatrics."},{"key":"1034_CR3","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1016\/j.nmd.2014.03.008","volume":"24","author":"JK Mah","year":"2014","unstructured":"Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24:482\u201391.","journal-title":"Neuromuscul Disord"},{"key":"1034_CR4","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s11940-018-0513-6","volume":"20","author":"M Crone","year":"2018","unstructured":"Crone M, Mah JK. Current and emerging therapies for Duchenne muscular dystrophy. Curr Treat Options Neurol. 2018;20:31.","journal-title":"Curr Treat Options Neurol"},{"key":"1034_CR5","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1002\/mus.20586","volume":"34","author":"A Aartsma-Rus","year":"2006","unstructured":"Aartsma-Rus A, Van Deutekom JCT, Fokkema IF, Van Ommen G-JB, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006;34:135\u201344.","journal-title":"Muscle Nerve"},{"key":"1034_CR6","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1017\/S0317167100011896","volume":"38","author":"JK Mah","year":"2011","unstructured":"Mah JK, Selby K, Campbell C, Nadeau A, Tarnopolsky M, McCormick A, et al. A population-based study of dystrophin mutations in Canada. Can J Neurol Sci. 2011;38:465\u201374.","journal-title":"Can J Neurol Sci"},{"key":"1034_CR7","first-page":"498","volume":"45","author":"M Koenig","year":"1989","unstructured":"Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989;45:498\u2013506.","journal-title":"Am J Hum Genet"},{"key":"1034_CR8","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/0888-7543(88)90113-9","volume":"2","author":"AP Monaco","year":"1988","unstructured":"Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988;2:90\u20135.","journal-title":"Genomics."},{"key":"1034_CR9","doi-asserted-by":"publisher","unstructured":"Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2016. \n                    https:\/\/doi.org\/10.1002\/14651858.CD003725.pub4\n                    \n                  .","DOI":"10.1002\/14651858.CD003725.pub4"},{"key":"1034_CR10","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1097\/01.phm.0000184156.98671.d0","volume":"84","author":"B Balaban","year":"2005","unstructured":"Balaban B, Matthews DJ, Clayton GH, Carry T. Corticosteroid treatment and functional improvement in Duchenne muscular dystrophy: long-term effect. Am J Phys Med Rehabil. 2005;84:843\u201350.","journal-title":"Am J Phys Med Rehabil"},{"key":"1034_CR11","doi-asserted-by":"publisher","first-page":"1344","DOI":"10.1002\/1097-4598(200009)23:9<1344::AID-MUS4>3.0.CO;2-F","volume":"23","author":"MD Bonifati","year":"2000","unstructured":"Bonifati MD, Ruzza G, Bonometto P, Berardinelli A, Gorni K, Orcesi S, et al. A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve. 2000;23:1344\u20137.","journal-title":"Muscle Nerve"},{"key":"1034_CR12","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1002\/mus.26191","volume":"58","author":"PB Shieh","year":"2018","unstructured":"\u2022 Shieh PB, McIntosh J, Jin F, Souza M, Elfring G, Narayanan S, et al. Deflazacort vs prednisone\/prednisolone for maintaining motor function and delaying loss of ambulation: a post hoc analysis from the ACT DMD trial. Muscle Nerve. 2018;58:639\u201345 This study provides data supporting use of deflazacort for DMD, providing another important option with fewer side effects.","journal-title":"Muscle Nerve"},{"key":"1034_CR13","unstructured":"Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR-DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01603407\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR14","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/0960-8966(94)90068-X","volume":"4","author":"RJ Gorospe","year":"1994","unstructured":"Gorospe RJ, Tharp M, Demitsu T, Hoffman EP. Dystrophin deficient myofibers are vulnerable to mast cell granule induced necrosis. Neuromuscul Disord. 1994;4:325\u201333.","journal-title":"Neuromuscul Disord"},{"key":"1034_CR15","unstructured":"CRD007 for the treatment of Duchenne muscular dystrophy, Becker muscular dystrophy and symptomatic carriers. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01540604\n                    \n                  . Accessed 23 June 2019."},{"key":"1034_CR16","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1172\/JCI30556","volume":"117","author":"S Acharyya","year":"2007","unstructured":"Acharyya S, Villalta SA, Bakkar N, Bupha-Intr T, Janssen PM, Carathers M, et al. Interplay of IKK\/NF-kappaB signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy. J Clin Invest. 2007;117:889\u2013901.","journal-title":"J Clin Invest"},{"key":"1034_CR17","doi-asserted-by":"publisher","first-page":"1569","DOI":"10.1002\/emmm.201302621","volume":"5","author":"CR Heier","year":"2013","unstructured":"Heier CR, Damsker JM, Yu Q, Dillingham BC, Huynh T, Van der Meulen JH, et al. VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects. EMBO Mol Med. 2013;5:1569\u201385.","journal-title":"EMBO Mol Med"},{"key":"1034_CR18","unstructured":"A study to assess the efficacy and safety of vamorolone in boys with Duchenne muscular dystrophy (DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03439670\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR19","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1002\/jcph.842","volume":"57","author":"JM Donovan","year":"2017","unstructured":"Donovan JM, Zimmer M, Offman E, Grant T, Jirousek M. A novel NF-kappaB inhibitor, edasalonexent (CAT-1004), in development as a disease-modifying treatment for patients with Duchenne muscular dystrophy: phase 1 safety, pharmacokinetics, and pharmacodynamics in adult subjects. J Clin Pharmacol. 2017;57:627\u201339.","journal-title":"J Clin Pharmacol"},{"key":"1034_CR20","unstructured":"Phase 1\/2 study in boys with Duchenne muscular dystrophy (MoveDMD\u00ae). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02439216\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR21","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.redox.2015.01.009","volume":"4","author":"N Gueven","year":"2015","unstructured":"Gueven N, Woolley K, Smith J. Border between natural product and drug: comparison of the related benzoquinones idebenone and coenzyme Q10. Redox Biol. 2015;4:289\u201395.","journal-title":"Redox Biol"},{"key":"1034_CR22","doi-asserted-by":"publisher","first-page":"1748","DOI":"10.1016\/S0140-6736(15)60025-3","volume":"385","author":"GM Buyse","year":"2015","unstructured":"Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, et al. Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. Lancet. 2015;385:1748\u201357.","journal-title":"Lancet."},{"key":"1034_CR23","unstructured":"A phase III double-blind study with idebenone in patients with Duchenne muscular dystrophy (DMD) taking glucocorticoid steroids (SIDEROS). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02814019\n                    \n                  . Accessed 23 Jul 2019."},{"issue":"24","key":"1034_CR24","doi-asserted-by":"publisher","first-page":"5567","DOI":"10.1111\/febs.13098","volume":"281","author":"I Ramirez-Sanchez","year":"2014","unstructured":"Ramirez-Sanchez I, De Los SS, Gonzalez-Basurto S, Canto P, MendozaLorenzo P, Palma-Flores C, et al. (\u2212)-Epicatechin improves mitochondrial-related protein levels and ameliorates oxidative stress in dystrophic delta-sarcoglycan null mouse striated muscle. FEBS J. 2014;281(24):5567\u201380.","journal-title":"FEBS J"},{"issue":"4","key":"1034_CR25","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1007\/s00418-008-0390-2","volume":"129","author":"Y Nakae","year":"2008","unstructured":"Nakae Y, Hirasaka K, Goto J, Nikawa T, Shono M, Yoshida M, et al. Subcutaneous injection, from birth, of epigallocatechin-3-gallate, a component of green tea, limits the onset of muscular dystrophy in mdx mice: a quantitative histological, immunohistochemical and electrophysiological study. Histochem Cell Biol. 2008;129(4):489\u2013501.","journal-title":"Histochem Cell Biol"},{"key":"1034_CR26","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1007\/s12079-017-0439-x","volume":"12","author":"MJ Acuna","year":"2018","unstructured":"Acuna MJ, Salas D, Cordova-Casanova A, et al. Blockade of Bradykinin receptors worsens the dystrophic phenotype of mdx mice: differential effects for B1 and B2 receptors. J Cell Commun Signal. 2018;12:589\u2013601.","journal-title":"J Cell Commun Signal"},{"key":"1034_CR27","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.jneuroim.2006.03.005","volume":"175","author":"F Andreetta","year":"2006","unstructured":"Andreetta F, Bernasconi P, Baggi F, Ferro P, Oliva L, Arnoldi E, et al. Immunomodulation of TGF-beta 1 in mdx mouse inhibits connective tissue proliferation in diaphragm but increases inflammatory response: implications for antifibrotic therapy. J Neuroimmunol. 2006;175:77\u201386.","journal-title":"J Neuroimmunol"},{"key":"1034_CR28","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1007\/s00441-013-1642-6","volume":"353","author":"MG Morales","year":"2013","unstructured":"Morales MG, Cabrera D, Cespedes C, et al. Inhibition of the angiotensin converting enzyme decreases skeletal muscle fibrosis in dystrophic mice by a diminution in the expression and activity of connective tissue growth factor (CTGF\/CCN-2). Cell Tissue Res. 2013;353:173\u201387.","journal-title":"Cell Tissue Res"},{"key":"1034_CR29","doi-asserted-by":"publisher","first-page":"e20856","DOI":"10.1371\/journal.pone.0020856","volume":"6","author":"LT Bish","year":"2011","unstructured":"Bish LT, Yarchoan M, Sleeper MM, et al. Chronic losartan administration reduces mortality and preserves cardiac but not skeletal muscle function in dystrophic mice. PLoS One. 2011;6:e20856.","journal-title":"PLoS One"},{"key":"1034_CR30","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1177\/1074248410381757","volume":"16","author":"CF Spurney","year":"2011","unstructured":"Spurney CF, Sali A, Guerron AD, et al. Losartan decreases cardiac muscle fibrosis and improves cardiac function in dystrophin-deficient mdx mice. J Cardiovasc Pharmacol Ther. 2011;16:87\u201395.","journal-title":"J Cardiovasc Pharmacol Ther"},{"key":"1034_CR31","unstructured":"Trial of pamrevlumab (FG-3019), in non-ambulatory subjects with Duchenne muscular dystrophy (DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02606136\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR32","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1038\/nm1479","volume":"12","author":"GC Minetti","year":"2006","unstructured":"Minetti GC, Colussi C, Adami R, Serra C, Mozzetta C, Parente V, et al. Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors. Nat Med. 2006;12:1147\u201350.","journal-title":"Nat Med"},{"key":"1034_CR33","unstructured":"Clinical study to evaluate the efficacy and safety of givinostat in ambulant patients with Duchenne muscular dystrophy. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02851797\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR34","doi-asserted-by":"publisher","first-page":"1737","DOI":"10.1152\/japplphysiol.00664.2018","volume":"126","author":"A Batra","year":"2019","unstructured":"Batra A. Effects of PDE5 inhibition on dystrophic muscle following an acute bout of downhill running and endurance training. J Appl Physiol. 2019;126:1737\u201345.","journal-title":"J Appl Physiol"},{"key":"1034_CR35","doi-asserted-by":"publisher","first-page":"1811","DOI":"10.1212\/WNL.0000000000004570","volume":"89","author":"RG Victor","year":"2017","unstructured":"Victor RG, Sweeney HL, Finkel R, McDonald CM, Byrne B, Eagle M, et al. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurol. 2017;89:1811\u201320.","journal-title":"Neurol."},{"key":"1034_CR36","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1002\/ana.10385","volume":"52","author":"KR Wagner","year":"2002","unstructured":"Wagner KR, McPherron AC, Winik N, Lee SJ. Loss of myostatin attenuates severity of muscular dystrophy in mdx mice. Ann Neurol. 2002;52:832\u20136.","journal-title":"Ann Neurol"},{"key":"1034_CR37","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1002\/ana.21338","volume":"63","author":"KR Wagner","year":"2008","unstructured":"Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, et al. A phase I\/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 2008;63:561\u201371.","journal-title":"Ann Neurol"},{"key":"1034_CR38","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1002\/mus.24569","volume":"52","author":"DG Leung","year":"2015","unstructured":"Leung DG, Carrino JA, Wagner KR, Jacobs MA. Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2015;52:512\u201320.","journal-title":"Muscle Nerve"},{"key":"1034_CR39","doi-asserted-by":"publisher","first-page":"42","DOI":"10.3389\/fphys.2019.00042","volume":"10","author":"JH Lee","year":"2019","unstructured":"Lee JH, Jun HS. Role of myokines in regulating skeletal muscle mass and function. Front Physiol. 2019;10:42.","journal-title":"Front Physiol"},{"key":"1034_CR40","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/s13395-017-0141-y","volume":"7","author":"M St Andre","year":"2017","unstructured":"St Andre M, Johnson M, Bansal PN, Wellen J, Robertson A, Opsahl A, et al. A mouse anti-myostatin antibody increases muscle mass and improves muscle strength and contractility in the mdx mouse model of Duchenne muscular dystrophy and its humanized equivalent, domagrozumab (PF-06252616), increases muscle volume in cynomolgus monkeys. Skelet Muscle. 2017;7:25.","journal-title":"Skelet Muscle"},{"key":"1034_CR41","unstructured":"Wadhwa N. Pfizer terminates domagrozumab (PF-06252616) clinical studies for the treatment of Duchenne muscular dystrophy. Pfizer Press release. 30 Aug 2018. \n                    https:\/\/www.pfizer.com\/news\/press-release\/press-release-detail\/pfizer_terminates_domagrozumab_pf_06252616_clinical_studies_for_the_treatment_of_duchenne_muscular_dystrophy\n                    \n                  . Accessed 30 Aug 2019."},{"key":"1034_CR42","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1002\/mus.25268","volume":"55","author":"C Campbell","year":"2017","unstructured":"Campbell C, McMillan HJ, Mah JK, Tarnopolsky M, Selby K, McClure T, et al. Myostatin inhibitor ACE-031 treatment of ambulatory boys with Duchenne muscular dystrophy: results of a randomized, placebo-controlled clinical trial. Muscle Nerve. 2017;55:458\u201364.","journal-title":"Muscle Nerve"},{"key":"1034_CR43","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1038\/360591a0","volume":"360","author":"JM Tinsley","year":"1992","unstructured":"Tinsley JM, Blake DJ, Roche A, Fairbrother U, Riss J, Byth BC, et al. Primary structure of dystrophin-related protein. Nature. 1992;360:591\u20133.","journal-title":"Nature."},{"key":"1034_CR44","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1016\/0896-6273(91)90301-F","volume":"7","author":"K Ohlendieck","year":"1991","unstructured":"Ohlendieck K, Ervasti JM, Matsumura K, Kahl SD, Leveille CJ, Campbell KP. Dystrophin-related protein is localized to neuromuscular junctions of adult skeletal muscle. Neuron. 1991;7:499\u2013508.","journal-title":"Neuron."},{"key":"1034_CR45","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1016\/S0092-8674(00)80532-2","volume":"90","author":"AE Deconinck","year":"1997","unstructured":"Deconinck AE, Rafael JA, Skinner JA, Brown SC, Potter AC, Metzinger L, et al. Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell. 1997;90:717\u201327.","journal-title":"Cell."},{"key":"1034_CR46","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1016\/S0092-8674(00)80533-4","volume":"90","author":"RM Grady","year":"1997","unstructured":"Grady RM, Teng H, Nichol MC, Cunningham JC, Wilkinson RS, Sanes JR. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Cell. 1997;90:729\u201338.","journal-title":"Cell."},{"key":"1034_CR47","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1038\/4033","volume":"4","author":"J Tinsley","year":"1998","unstructured":"Tinsley J, Deconinck N, Fisher R, Kahn D, Phelps S, Gillis JM, et al. Expression of full-length utrophin prevents muscular dystrophy in mdx mice. Nat Med. 1998;4:1441\u20134.","journal-title":"Nat Med"},{"key":"1034_CR48","unstructured":"PoC study to assess activity and safety of SMT C1100 (ezutromid) in boys with DMD (PhaseOut DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02858362\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR49","unstructured":"Summit announces phaseout DMD did not meet primary endpoint [press release]. \n                    https:\/\/www.summitplc.com\/wp-content\/uploads\/2018\/08\/2018_RNS_30-PhaseOut-Full-Results-FINAL.pdf\n                    \n                  . 27 June 2018 2018."},{"key":"1034_CR50","unstructured":"Gene transfer clinical trial to deliver rAAVrh74.MCK.GALGT2 for Duchenne muscular dystrophy. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03333590\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR51","doi-asserted-by":"publisher","first-page":"5616","DOI":"10.1073\/pnas.082613599","volume":"99","author":"HH Nguyen","year":"2002","unstructured":"Nguyen HH, Jayasinha V, Xia B, Hoyte K, Martin PT. Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice. Proc Natl Acad Sci U S A. 2002;99:5616\u201321.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1034_CR52","unstructured":"A Study of CAP-1002 in Ambulatory and non-ambulatory patients with Duchenne muscular dystrophy (HOPE-2). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03406780\n                    \n                  . Accessed 23 Jul 2019."},{"issue":"8","key":"1034_CR53","doi-asserted-by":"publisher","first-page":"e0134832","DOI":"10.1371\/journal.pone.0134832","volume":"10","author":"BE Markham","year":"2015","unstructured":"Markham BE, Kernodle S, Nemzek J, Wilkinson JE, Sigler R. Chronic dosing with membrane sealant poloxamer 188 NF improves respiratory dysfunction in dystrophic mdx and mdx\/Utrophin-\/- mice. PLoS One. 2015;10(8):e0134832.","journal-title":"PLoS One"},{"key":"1034_CR54","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1002\/humu.20918","volume":"30","author":"A Aartsma-Rus","year":"2009","unstructured":"Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen G, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat. 2009;30:293\u20139.","journal-title":"Hum Mutat"},{"key":"1034_CR55","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.nmd.2017.10.004","volume":"28","author":"N Goemans","year":"2018","unstructured":"Goemans N, Mercuri E, Belousova E, Komaki H, Dubrovsky A, McDonald CM, et al. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Neuromuscul Disord. 2018;28:4\u201315.","journal-title":"Neuromuscul Disord"},{"key":"1034_CR56","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1002\/ana.24555","volume":"79","author":"JR Mendell","year":"2016","unstructured":"\u2022 Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, et al. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Ann Neurol. 2016;79:257\u201371 This study provides important details about the trial that accelerated FDA approval of eteplirsen.","journal-title":"Ann Neurol"},{"key":"1034_CR57","unstructured":"Study of SRP-4045 and SRP-4053 in DMD patients (ESSENCE). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02500381\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR58","unstructured":"Phase I\/II study of PRO044 in Duchenne muscular dystrophy (DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01037309\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR59","unstructured":"Open Label, Extension study of PRO044 in Duchenne muscular dystrophy (DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02329769\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR60","unstructured":"A Randomized, Double-blind, placebo-controlled, efficacy and safety study of WVE-210201 (Suvodirsen) in ambulatory patients With Duchenne muscular dystrophy (DYSTANCE 51). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03907072\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR61","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1002\/humu.22758","volume":"36","author":"CL Bladen","year":"2015","unstructured":"Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, et al. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015;36:395\u2013402.","journal-title":"Hum Mutat"},{"key":"1034_CR62","volume-title":"Development of oligonucleotides for the treatment of Duchenne muscular dystrophy (DMD). RNA Meeting","author":"MA Passini","year":"2017","unstructured":"Passini MA. Development of oligonucleotides for the treatment of Duchenne muscular dystrophy (DMD). RNA Meeting. Cold Spring Harbor: Cold Spring Harbor Laboratory; 2017."},{"key":"1034_CR63","unstructured":"Passini MAG L, Wood JA, Yao M, Estrella NL, Treleaven CM, Charleston JS, Rutkowski JV, Hanson GJ. Development of PPMO for the treatment of DMD. 13th Annual Meeting of the Oligonucleotide Therapeutics Society; Bordeaux, France, 2017."},{"key":"1034_CR64","unstructured":"A study to evaluate the safety, tolerability, and pharmacokinetics of a single dose of SRP-5051 in patients with Duchenne muscular dystrophy (DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03375255\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR65","unstructured":"Safety and dose finding study of NS-065\/NCNP-01 in boys with Duchenne muscular dystrophy (DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02740972\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR66","unstructured":"Safety and tolerability ofWVE-210201 in patients with Duchenne muscular dystrophy. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03508947\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR67","unstructured":"Study of DS-5141b in patients with Duchenne muscular dystrophy. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02667483\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR68","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1212\/WNL.57.4.645","volume":"57","author":"JR Mendell","year":"2001","unstructured":"Mendell JR, Buzin CH, Feng J, Yan J, Serrano C, Sangani DS, et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology. 2001;57:645\u201350.","journal-title":"Neurology."},{"key":"1034_CR69","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1177\/0883073810371129","volume":"25","author":"RS Finkel","year":"2010","unstructured":"Finkel RS. Read-through strategies for suppression of nonsense mutations in Duchenne\/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol. 2010;25:1158\u201364.","journal-title":"J Child Neurol"},{"key":"1034_CR70","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1177\/1756285610388693","volume":"3","author":"V Malik","year":"2010","unstructured":"Malik V, Rodino-Klapac LR, Viollet L, Mendell JR. Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. Ther Adv Neurol Disorder. 2010;3:379\u201389.","journal-title":"Ther Adv Neurol Disorder"},{"key":"1034_CR71","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1177\/0091270006297140","volume":"47","author":"S Hirawat","year":"2007","unstructured":"Hirawat S, Welch EM, Elfring GL, Northcutt VJ, Paushkin S, Hwang S, et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol. 2007;47:430\u201344.","journal-title":"J Clin Pharmacol"},{"key":"1034_CR72","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1038\/nbt0814-706","volume":"32","author":"A Mullard","year":"2014","unstructured":"Mullard A. EMA reconsiders \u2018readthrough\u2019 drug against Duchenne muscular dystrophy following appeal. Nat Biotechnol. 2014;32:706.","journal-title":"Nat Biotechnol"},{"key":"1034_CR73","doi-asserted-by":"publisher","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","volume":"390","author":"CM McDonald","year":"2017","unstructured":"McDonald CM, Campbell C, Torricelli RE, et al. Clinical Evaluator Training Group; ACT DMD Study Group. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebocontrolled, phase 3 trial. Lancet. 2017;390:1489\u201398.","journal-title":"Lancet."},{"key":"1034_CR74","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/343180a0","volume":"343","author":"SB England","year":"1990","unstructured":"England SB, Nicholson LV, Johnson MA, Forrest SM, Love DR, Zubrzycka-Gaarn EE, et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature. 1990;343:180\u20132.","journal-title":"Nature."},{"key":"1034_CR75","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1038\/nm0302-253","volume":"8","author":"SQ Harper","year":"2002","unstructured":"Harper SQ, Hauser MA, DelloRusso C, Duan D, Crawford RW, Phelps SF, et al. Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med. 2002;8:253\u201361.","journal-title":"Nat Med"},{"key":"1034_CR76","unstructured":"Systemic gene delivery clinical trial for Duchenne muscular dystrophy. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03375164\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR77","unstructured":"Mendell J. System delivery of AAVrh74.MHCK7.Micro-dystrophin for Duchenne Muscular dystroph (preliminary results from phase I\/II clinical trial). Sarepta Therapeutics R&D Day 2018."},{"key":"1034_CR78","unstructured":"Microdystrophin gene transfer study in adolescents and children with DMD (IGNITE DMD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03368742\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR79","doi-asserted-by":"publisher","first-page":"S188","DOI":"10.1016\/j.nmd.2017.06.343","volume":"27","author":"J. Schneider","year":"2017","unstructured":"Schneider JSG, Brown, KJ, Golebiowski D, Shanks C, Ricotti V, Quiroz, J, et al. SGT-001 Microdystrophin gene therapy for duchenne muscular dystrophy. 22nd International Annual Congress of the World Muscle Society; Saint-Malo, France 2017.","journal-title":"Neuromuscular Disorders"},{"key":"1034_CR80","unstructured":"A study to evaluate the safety and tolerability of PF-06939926 gene therapy in Duchenne muscular dystrophy. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03362502\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR81","unstructured":"Moorehead T. Pfizer PF-06939926: gene therapy safety and tolerability study in Duchenne muscular dystrophy (DMD). Parent Project Muscular Dystrophy Annual Conference; Scottsdale, Arizona 2018."},{"key":"1034_CR82","doi-asserted-by":"publisher","first-page":"4854","DOI":"10.1182\/blood.V90.12.4854","volume":"90","author":"JP Gardner","year":"1997","unstructured":"Gardner JP, Zhu H, Colosi PC, Kurtzman GJ, Scadden DT. Robust, but transient expression of adeno-associated virus-transduced genes during human T lymphopoiesis. Blood. 1997;90:4854\u201364.","journal-title":"Blood."},{"key":"1034_CR83","first-page":"442","volume":"11","author":"DR Deyle","year":"2009","unstructured":"Deyle DR, Russell DW. Adeno-associated virus vector integration. Curr Opin Mol Ther. 2009;11:442\u20137.","journal-title":"Curr Opin Mol Ther"},{"key":"1034_CR84","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1002\/ajmg.a.38418","volume":"176","author":"JJ Dowling","year":"2018","unstructured":"Dowling JJ, Gonorazky HD, Cohn RD, Campbell C. Treating pediatric neuromuscular disorders: the future is now. Am J Med Genet A. 2018;176:804\u201341.","journal-title":"Am J Med Genet A"},{"key":"1034_CR85","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1126\/science.1231143","volume":"339","author":"L Cong","year":"2013","unstructured":"Cong L, Ran FA, Cox D, Lin S, Barretto R, Habib N, et al. Multiplex genome engineering using CRISPR\/Cas systems. Science. 2013;339:819\u201323.","journal-title":"Science."},{"key":"1034_CR86","doi-asserted-by":"publisher","first-page":"6244","DOI":"10.1038\/ncomms7244","volume":"6","author":"DG Ousterout","year":"2015","unstructured":"Ousterout DG, Kabadi AM, Thakore PI, Majoros WH, Reddy TE, Gersbach CA. Multiplex CRISPR\/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy. Nat Commun. 2015;6:6244.","journal-title":"Nat Commun"},{"key":"1034_CR87","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/j.ajhg.2015.11.012","volume":"98","author":"D Wojtal","year":"2016","unstructured":"Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, et al. Spell checking nature: versatility of CRISPR\/Cas9 for developing treatments for inherited disorders. Am J Hum Genet. 2016;98:90\u2013101.","journal-title":"Am J Hum Genet"},{"key":"1034_CR88","first-page":"1","volume":"8","author":"CA Szigyarto","year":"2018","unstructured":"Szigyarto CA, Spitali P. Biomarkers of Duchenne muscular dystrophy: current findings. Degener Neurol Neuromuscul Dis. 2018;8:1\u201313.","journal-title":"Degener Neurol Neuromuscul Dis"},{"key":"1034_CR89","doi-asserted-by":"publisher","first-page":"241","DOI":"10.3233\/JND-140066","volume":"2","author":"PM Burch","year":"2015","unstructured":"Burch PM, Pogoryelova O, Goldstein R, Bennett D, Guglieri M, Straub V, et al. Muscle-derived proteins as serum biomarkers for monitoring disease progression in three forms of muscular dystrophy. J Neuromuscul Dis. 2015;2:241\u201355.","journal-title":"J Neuromuscul Dis"},{"key":"1034_CR90","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/mus.880050111","volume":"5","author":"ME Percy","year":"1982","unstructured":"Percy ME, Andrews DF, Thompson MW. Serum creatine kinase in the detection of Duchenne muscular dystrophy carriers: effects of season and multiple testing. Muscle Nerve. 1982;5:58\u201364.","journal-title":"Muscle Nerve"},{"key":"1034_CR91","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1002\/jmri.21941","volume":"30","author":"P Garrood","year":"2009","unstructured":"Garrood P, Hollingsworth KG, Eagle M, Aribisala BS, Birchall D, Bushby K, et al. MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise. J Magn Reson Imaging. 2009;30:1130\u20138.","journal-title":"J Magn Reson Imaging"},{"key":"1034_CR92","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1148\/radiol.13121948","volume":"269","author":"SC Forbes","year":"2013","unstructured":"Forbes SC, Walter GA, Rooney WD, Wang DJ, DeVos S, Pollaro J, et al. Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy. Radiology. 2013;269:198\u2013207.","journal-title":"Radiology."},{"key":"1034_CR93","doi-asserted-by":"publisher","first-page":"882","DOI":"10.1016\/S1474-4422(16)30035-7","volume":"15","author":"V Straub","year":"2016","unstructured":"Straub V, Balabanov P, Bushby K, et al. Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy. Lancet Neurol. 2016;15:882\u201390.","journal-title":"Lancet Neurol"},{"key":"1034_CR94","doi-asserted-by":"publisher","first-page":"R297","DOI":"10.1088\/0031-9155\/60\/21\/R297","volume":"60","author":"KG Hollingsworth","year":"2015","unstructured":"Hollingsworth KG. Reducing acquisition time in clinical MRI by data undersampling and compressed sensing reconstruction. Phys Med Biol. 2015;60:R297\u2013322.","journal-title":"Phys Med Biol"},{"key":"1034_CR95","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1002\/ana.23819","volume":"73","author":"KM Flanigan","year":"2013","unstructured":"Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, et al. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol. 2013;73:481\u20138.","journal-title":"Ann Neurol"},{"key":"1034_CR96","doi-asserted-by":"publisher","first-page":"1060","DOI":"10.1136\/jnnp-2014-308409","volume":"86","author":"JC van den Bergen","year":"2015","unstructured":"van den Bergen JC, Hiller M, Bohringer S, et al. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry. 2015;86:1060\u20135.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1034_CR97","doi-asserted-by":"publisher","first-page":"1126","DOI":"10.1016\/j.exphem.2010.10.004","volume":"38","author":"N Sch\u00f6ler","year":"2010","unstructured":"Sch\u00f6ler N, Langer C, D\u00f6hner H, Buske C, Kuchenbauer F. Serum microRNAs as a novel class of biomarkers: a comprehensive review of the literature. Exp Hematol. 2010;38:1126\u201330.","journal-title":"Exp Hematol"},{"key":"1034_CR98","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.nmd.2016.11.003","volume":"27","author":"M Llano-Diez","year":"2017","unstructured":"Llano-Diez M, Ortez CI, Gay JA, \u00c1lvarez-Cabado L, Jou C, Medina J, et al. Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy. Neuromuscul Disord. 2017;27:15\u201323.","journal-title":"Neuromuscul Disord"},{"key":"1034_CR99","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1212\/WNL.0000000000000892","volume":"83","author":"P Narayanaswami","year":"2014","unstructured":"Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014;83:1453\u201363.","journal-title":"Neurology."},{"key":"1034_CR100","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/j.spen.2006.06.006","volume":"13","author":"V Straub","year":"2006","unstructured":"Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006;13:104\u201314.","journal-title":"Semin Pediatr Neurol"},{"key":"1034_CR101","doi-asserted-by":"publisher","first-page":"1549","DOI":"10.1002\/(SICI)1097-4598(199811)21:11<1549::AID-MUS30>3.0.CO;2-T","volume":"21","author":"AM Connolly","year":"1998","unstructured":"Connolly AM, Pestronk A, Mehta S, Al-Lozi M. Primary alpha-sarcoglycan deficiency responsive to immunosuppression over three years. Muscle Nerve. 1998;21:1549\u201353.","journal-title":"Muscle Nerve"},{"key":"1034_CR102","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1002\/ana.21006","volume":"60","author":"C Godfrey","year":"2006","unstructured":"Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol. 2006;60:603\u201310.","journal-title":"Ann Neurol"},{"key":"1034_CR103","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1093\/eurjhf\/hfp028","volume":"11","author":"R Bauer","year":"2009","unstructured":"Bauer R, Straub V, Blain A, Bushby K, MacGowan GA. Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail. 2009;11:463\u201371.","journal-title":"Eur J Heart Fail"},{"issue":"11","key":"1034_CR104","doi-asserted-by":"publisher","first-page":"2520","DOI":"10.1016\/j.ajpath.2017.07.017","volume":"187","author":"M Quattrocelli","year":"2017","unstructured":"Quattrocelli M, Salamone IM, Page PG, Warner JL, Demonbreun AR, McNally EM. Intermittent glucocorticoid dosing improves muscle repair and function in mice with limb-girdle muscular dystrophy. Am J Pathol. 2017;187(11):2520\u201335.","journal-title":"Am J Pathol"},{"key":"1034_CR105","unstructured":"A study of deflazacort (Emflaza\u00ae) in participants with limb-girdle muscular dystrophy 2I (LGMD2I). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03783923\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR106","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1750-1172-8-26","volume":"8","author":"MC Walter","year":"2013","unstructured":"Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, et al. Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. Orphanet J Rare Dis. 2013;8:26.","journal-title":"Orphanet J Rare Dis"},{"key":"1034_CR107","unstructured":"Clinical trial of coenzyme Q10 and lisinopril in muscular dystrophies. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01126697\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR108","unstructured":"Clinical study of aav1-gamma-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01344798\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR109","unstructured":"Gene transfer clinical trial for LGMD2E (beta-sarcoglycan deficiency) Using scAAVrh74.MHCK7.hSGCB. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03652259\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR110","unstructured":"Gene transfer clinical trial for LGMD2D (alpha-sarcoglycan deficiency) using scAAVrh74.tMCK.hSGCA. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01976091\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR111","unstructured":"Gene transfer therapy for treating children and adults with limb girdle muscular dystrophy type 2D (LGMD2D). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT00494195.\n                    \n                   Accessed 23 Jul 2019."},{"key":"1034_CR112","unstructured":"rAAVrh74.MHCK7.DYSF.DV for treatment of dysferlinopathies. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02710500\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR113","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1089\/hum.2012.212","volume":"24","author":"Z Gao","year":"2013","unstructured":"Gao Z, Cooper TA. Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy. Hum Gene Ther. 2013;24:499\u2013507.","journal-title":"Hum Gene Ther"},{"key":"1034_CR114","first-page":"1889","volume":"22","author":"VA Sansone","year":"2016","unstructured":"Sansone VA. The dystrophic and nondystrophic myotonias. Continuum (Minneap Minn). 2016;22:1889\u2013915.","journal-title":"Continuum (Minneap Minn)"},{"key":"1034_CR115","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1212\/WNL.0b013e3181dc1a3a","volume":"74","author":"EL Logigian","year":"2010","unstructured":"Logigian EL, et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology. 2010;74:1441.","journal-title":"Neurology."},{"key":"1034_CR116","doi-asserted-by":"publisher","first-page":"e26555","DOI":"10.4161\/rdis.26555","volume":"1","author":"C Wei","year":"2013","unstructured":"Wei C, Jones K, Timchenko NA, Timchenko L. GSK3\u03b2 is a new therapeutic target for myotonic dystrophy type 1. Rare Dis. 2013;1:e26555.","journal-title":"Rare Dis"},{"key":"1034_CR117","unstructured":"Efficacy and safety of tideglusib in congenital myotonic dystrophy. \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03692312\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR118","unstructured":"Madsen A. Ionis reports setback on DMPKRx program for myotonic dystrophy. \n                    https:\/\/strongly.mda.org\/ionis-reports-setback-dmpkrx-program-myotonic-dystrophy\/\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR119","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1016\/B978-0-444-59565-2.00007-1","volume":"113","author":"G Bonne","year":"2013","unstructured":"Bonne G, Quijano-Roy S. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol. 2013;113:1367\u201376.","journal-title":"Handb Clin Neurol"},{"key":"1034_CR120","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1016\/j.nmd.2011.04.010","volume":"21","author":"H Komaki","year":"2011","unstructured":"Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, et al. Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord. 2011;21:563\u20138.","journal-title":"Neuromuscul Disord"},{"key":"1034_CR121","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1016\/j.bbrc.2014.09.020","volume":"452","author":"A Muchir","year":"2014","unstructured":"Muchir A, Wu W, Sera F, Homma S, Worman HJ. Mitogen-activated protein kinase kinase 1\/2 inhibition and angiotensin II converting inhibition in mice with cardiomyopathy caused by lamin A\/C gene mutation. Biochem Biophys Res Commun. 2014;452:958\u201361.","journal-title":"Biochem Biophys Res Commun"},{"key":"1034_CR122","doi-asserted-by":"publisher","first-page":"144ra102","DOI":"10.1126\/scitranslmed.3003875","volume":"4","author":"JC Choi","year":"2012","unstructured":"Choi JC, Muchir A, Wu W, Iwata S, Homma S, Morrow JP, et al. Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A\/C gene mutation. Sci Transl Med. 2012;4:144ra102.","journal-title":"Sci Transl Med"},{"key":"1034_CR123","doi-asserted-by":"publisher","first-page":"144ra103","DOI":"10.1126\/scitranslmed.3003802","volume":"4","author":"FJ Ramos","year":"2012","unstructured":"Ramos FJ, Chen SC, Garelick MG, Dai DF, Liao CY, Schreiber KH, et al. Rapamycin reverses elevated mTORC1 signaling in lamin A\/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival. Sci Transl Med. 2012;4:144ra103.","journal-title":"Sci Transl Med"},{"key":"1034_CR124","doi-asserted-by":"publisher","first-page":"1492","DOI":"10.1016\/j.hrthm.2013.06.020","volume":"10","author":"F Anselme","year":"2013","unstructured":"Anselme F, Moubarak G, Savoure A, Godin B, Borz B, Drouin-Garraud V, et al. Implantable cardioverter-defibrillators in lamin A\/C mutation carriers with cardiac conduction disorders. Heart Rhythm. 2013;10:1492\u20138.","journal-title":"Heart Rhythm"},{"key":"1034_CR125","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1038\/gt.2015.8","volume":"22","author":"J Scharner","year":"2015","unstructured":"Scharner J, Figeac N, Ellis JA, Zammit PS. Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies. Gene Ther. 2015;22:503\u201315.","journal-title":"Gene Ther"},{"key":"1034_CR126","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.1212\/WNL.0000000000001416","volume":"84","author":"PB Kang","year":"2015","unstructured":"Kang PB, Morrison L, Iannaccone ST, Graham RJ, B\u00f6nnemann CG, Rutkowski A, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurol. 2015;84:1369\u201378.","journal-title":"Neurol."},{"key":"1034_CR127","doi-asserted-by":"publisher","first-page":"e65468","DOI":"10.1371\/journal.pone.0065468","volume":"8","author":"Q Yu","year":"2013","unstructured":"Yu Q, Sali A, Van der Meulen J, Creeden BK, Gordish-Dressman H, Rutkowski A, et al. Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J) mouse model of congenital muscular dystrophy. PLoS One. 2013;8:e65468.","journal-title":"PLoS One"},{"key":"1034_CR128","unstructured":"Congenital muscular dystrophy ascending multiple dose cohort study analyzing pharmacokinetics at three dose levels in children and adolescents with assessment of safety and tolerability of omigapil (CALLISTO) \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01805024\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR129","doi-asserted-by":"publisher","first-page":"2433","DOI":"10.1093\/hmg\/ddq126","volume":"19","author":"WR Telfer","year":"2010","unstructured":"Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ. Zebrafish models of collagen VI-related myopathies. Hum Mol Genet. 2010;19:2433\u201344.","journal-title":"Hum Mol Genet"},{"key":"1034_CR130","doi-asserted-by":"publisher","first-page":"5225","DOI":"10.1073\/pnas.0800962105","volume":"105","author":"L Merlini","year":"2008","unstructured":"Merlini L, Angelin A, Tiepolo T, Braghetta P, Sabatelli P, Zamparelli A, et al. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A. 2008;105:5225\u20139.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1034_CR131","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1038\/nm.2247","volume":"16","author":"P Grumati","year":"2010","unstructured":"Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med. 2010;16:1313\u201320.","journal-title":"Nat Med"},{"key":"1034_CR132","unstructured":"Low protein diet in patients with collagen 6 related myopathies (LPD). \n                    https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01438788\n                    \n                  . Accessed 23 Jul 2019."},{"key":"1034_CR133","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1002\/ana.22694","volume":"71","author":"M Elbaz","year":"2012","unstructured":"Elbaz M, Yanay N, Aga-Mizrachi S, Brunschwig Z, Kassis I, Ettinger K, et al. Losartan, a therapeutic candidate in congenital muscular dystrophy: studies in the dy(2J)\/dy(2J) mouse. Ann Neurol. 2012;71:699\u2013708.","journal-title":"Ann Neurol"},{"key":"1034_CR134","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1016\/j.ajpath.2011.12.019","volume":"180","author":"JE Rooney","year":"2012","unstructured":"Rooney JE, Knapp JR, Hodges BL, Wuebbles RD, Burkin DJ. Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy. Am J Pathol. 2012;180:1593\u2013602.","journal-title":"Am J Pathol"},{"key":"1034_CR135","doi-asserted-by":"publisher","first-page":"eaal4649","DOI":"10.1126\/scitranslmed.aal4649","volume":"9","author":"JR Reinhard","year":"2017","unstructured":"Reinhard JR, Lin S, McKee KK, Meinen S, Crosson SC, Sury M, et al. Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice. Sci Transl Med. 2017;9:eaal4649.","journal-title":"Sci Transl Med"},{"key":"1034_CR136","doi-asserted-by":"publisher","first-page":"e147","DOI":"10.1038\/mtna.2013.74","volume":"3","author":"V Bolduc","year":"2014","unstructured":"Bolduc V, Zou Y, Ko D, Bonnemann CG. siRNA-mediated allele-specific silencing of a COL6A3 mutation in a cellular model of dominant Ullrich muscular dystrophy. Mol Ther Nucleic Acids. 2014;3:e147.","journal-title":"Mol Ther Nucleic Acids"},{"key":"1034_CR137","doi-asserted-by":"publisher","first-page":"e171","DOI":"10.1038\/mtna.2014.22","volume":"3","author":"S Noguchi","year":"2014","unstructured":"Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I. Allele-specific gene silencing of mutant mRNA restores cellular function in Ullrich congenital muscular dystrophy fibroblasts. Mol Ther Nucleic Acids. 2014;3:e171.","journal-title":"Mol Ther Nucleic Acids"},{"key":"1034_CR138","doi-asserted-by":"publisher","first-page":"4914","DOI":"10.1093\/hmg\/ddt341","volume":"22","author":"Y Aoki","year":"2013","unstructured":"Aoki Y, Nagata T, Yokota T, Nakamura A, Wood MJ, Partridge T, et al. Highly efficient in vivo delivery of PMO into regenerating myotubes and rescue in laminin-alpha2 chain-null congenital muscular dystrophy mice. Hum Mol Genet. 2013;22:4914\u201328.","journal-title":"Hum Mol Genet"},{"key":"1034_CR139","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1038\/nature10456","volume":"478","author":"M Taniguchi-Ikeda","year":"2011","unstructured":"Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, et al. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature. 2011;478:127\u201331.","journal-title":"Nature."},{"key":"1034_CR140","doi-asserted-by":"publisher","first-page":"1832","DOI":"10.1038\/mt.2013.156","volume":"21","author":"L Xu","year":"2013","unstructured":"Xu L, Lu PJ, Wang CH, Keramaris E, Qiao C, Xiao B, et al. Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of alpha-dystroglycan and improves muscle functions. Mol Ther. 2013;21:1832\u201340.","journal-title":"Mol Ther"},{"key":"1034_CR141","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1089\/hum.2012.084","volume":"24","author":"M Yu","year":"2013","unstructured":"Yu M, He Y, Wang K, Zhang P, Zhang S, Hu H. Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy. Hum Gene Ther. 2013;24:317\u201330.","journal-title":"Hum Gene Ther"},{"key":"1034_CR142","doi-asserted-by":"publisher","first-page":"4543","DOI":"10.1093\/hmg\/ddu168","volume":"23","author":"F Saito","year":"2014","unstructured":"Saito F, Kanagawa M, Ikeda M, Hagiwara H, Masaki T, Ohkuma H, et al. Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. Hum Mol Genet. 2014;23:4543\u201358.","journal-title":"Hum Mol Genet"},{"key":"1034_CR143","doi-asserted-by":"publisher","first-page":"1262","DOI":"10.1016\/j.cell.2014.05.010","volume":"157","author":"PD Hsu","year":"2014","unstructured":"Hsu PD, Lander ES, Zhang F. Development and applications of CRISPR-Cas9 for genome engineering. Cell. 2014;157:1262\u201378.","journal-title":"Cell."},{"key":"1034_CR144","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1038\/nm.4367","volume":"23","author":"DU Kemaladewi","year":"2017","unstructured":"Kemaladewi DU, Maino E, Hyatt E, Hou H, Ding M, Place KM, et al. Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. Nat Med. 2017;23:984\u20139.","journal-title":"Nat Med"}],"container-title":["Current Neurology and Neuroscience Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-020-01034-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11910-020-01034-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-020-01034-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T03:27:48Z","timestamp":1593228468000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11910-020-01034-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,14]]},"references-count":144,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["1034"],"URL":"https:\/\/doi.org\/10.1007\/s11910-020-01034-6","relation":{},"ISSN":["1528-4042","1534-6293"],"issn-type":[{"value":"1528-4042","type":"print"},{"value":"1534-6293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,14]]},"assertion":[{"value":"14 May 2020","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"Dr. Neil Datta: reports no disclosures.Dr. Partha S Ghosh: received consulting fees from CVS Caremark, Catalyst Pharmaceuticals, and ad hoc scientific advisory board member of Sarepta.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This article does not contain any studies with human or animal subjects performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}],"article-number":"14"}}