{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T12:13:50Z","timestamp":1790165630114,"version":"4.1.0"},"reference-count":41,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,12]],"date-time":"2023-01-12T00:00:00Z","timestamp":1673481600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.nmd.2023.01.001","type":"journal-article","created":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T20:58:36Z","timestamp":1672952316000},"page":"199-207","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy"],"prefix":"10.1016","volume":"33","author":[{"given":"Ursula","family":"Moore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Fern\u00e1ndez-Sim\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianela","family":"Schiava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Gordish-Dressman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith K.","family":"James","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Mayhew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Guglieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Rufibach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Blamire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre G.","family":"Carlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madoka","family":"Mori-Yoshimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Day","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristi J.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana X.","family":"Bharucha-Goebel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Salort-Campana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Pestronk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie C.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Paradas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Bravver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry R.","family":"Mendell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Bushby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Diaz-Manera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9046-3540","authenticated-orcid":false,"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.nmd.2023.01.001_bib0001","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1093\/hmg\/3.3.455","article-title":"A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p","volume":"3","author":"Bashir","year":"1994","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1016\/j.nmd.2023.01.001_bib0002","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1212\/WNL.45.4.768","article-title":"Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14","volume":"45","author":"Bejaoui","year":"1995","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2023.01.001_bib0003","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2021.01.009","article-title":"Miyoshi Myopathy and Limb Girdle Muscular Dystrophy R2 are the same disease","author":"Moore","year":"2021","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"10.1016\/j.nmd.2023.01.001_bib0004","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.nmd.2008.01.004","article-title":"Late onset in dysferlinopathy widens the clinical spectrum","volume":"18","author":"Klinge","year":"2008","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"10.1016\/j.nmd.2023.01.001_bib0005","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000089","article-title":"The Clinical Outcome Study for dysferlinopathy: an international multicenter study","volume":"2","author":"Harris","year":"2016","journal-title":"Neurol Genet"},{"issue":"5","key":"10.1016\/j.nmd.2023.01.001_bib0006","doi-asserted-by":"crossref","first-page":"e461","DOI":"10.1212\/WNL.0000000000006858","article-title":"Assessment of disease progression in dysferlinopathy: a 1-year cohort study","volume":"92","author":"Moore","year":"2019","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.nmd.2023.01.001_bib0007","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3233\/JND-160145","article-title":"Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials","volume":"3","author":"Carlier","year":"2016","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2023.01.001_bib0008","first-page":"1","article-title":"Biomarkers of Duchenne muscular dystrophy: current findings","volume":"8","author":"Szigyarto","year":"2018","journal-title":"Degener Neurol Neuromuscul Dis"},{"issue":"3","key":"10.1016\/j.nmd.2023.01.001_bib0009","doi-asserted-by":"crossref","first-page":"241","DOI":"10.3233\/JND-140066","article-title":"Muscle-derived proteins as serum biomarkers for monitoring disease progression in three forms of muscular dystrophy","volume":"2","author":"Burch","year":"2015","journal-title":"J Neuromuscul Dis"},{"issue":"8","key":"10.1016\/j.nmd.2023.01.001_bib0010","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1002\/iub.1392","article-title":"Expanding horizons","volume":"67","author":"Sharma","year":"2015","journal-title":"IUBMB Life"},{"key":"10.1016\/j.nmd.2023.01.001_bib0011","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.omtm.2020.04.022","article-title":"Myostatin: a circulating biomarker correlating with disease in myotubular myopathy mice and patients","volume":"17","author":"Koch","year":"2020","journal-title":"Mol Ther Methods Clin Dev"},{"key":"10.1016\/j.nmd.2023.01.001_bib0012","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.omtm.2020.06.016","article-title":"Myostatin is a quantifiable biomarker for monitoring pharmaco-gene therapy in Duchenne muscular dystrophy","volume":"18","author":"Mariot","year":"2020","journal-title":"Mol Ther Methods Clin Dev"},{"key":"10.1016\/j.nmd.2023.01.001_bib0013","unstructured":"atlas Hp. The Human Protein Atlas - MSTN 2021 [Available from: https:\/\/www.proteinatlas.org\/ENSG00000138379-MSTN\/tissue."},{"issue":"1","key":"10.1016\/j.nmd.2023.01.001_bib0014","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1038\/s41467-017-01486-4","article-title":"Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches","volume":"8","author":"Mariot","year":"2017","journal-title":"Nat Commun"},{"issue":"3","key":"10.1016\/j.nmd.2023.01.001_bib0015","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1007\/s00415-016-8379-6","article-title":"Reduced serum myostatin concentrations associated with genetic muscle disease progression","volume":"264","author":"Burch","year":"2017","journal-title":"J Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2023.01.001_bib0016","doi-asserted-by":"crossref","DOI":"10.1152\/ajpgi.00184.2021","article-title":"Myostatin in combination with creatine phosphokinase or albumin may differentiate patients with cirrhosis and sarcopenia","volume":"321","author":"Alexopoulos","year":"2021","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"issue":"4","key":"10.1016\/j.nmd.2023.01.001_bib0017","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1007\/s10753-015-0149-6","article-title":"Postsurgical acute phase reaction is associated with decreased levels of circulating myostatin","volume":"38","author":"\u00c5kerfeldt","year":"2015","journal-title":"Inflammation"},{"issue":"8","key":"10.1016\/j.nmd.2023.01.001_bib0018","doi-asserted-by":"crossref","first-page":"2401","DOI":"10.3390\/nu12082401","article-title":"Myostatin as a biomarker of muscle wasting and other pathologies-state of the art and knowledge gaps","volume":"12","author":"Baczek","year":"2020","journal-title":"Nutrients"},{"key":"10.1016\/j.nmd.2023.01.001_bib0019","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.cyto.2017.12.008","article-title":"Myostatin and adipokines: the role of the metabolically unhealthy obese phenotype in muscle function and aerobic capacity in young adults","volume":"107","author":"Carvalho","year":"2018","journal-title":"Cytokine"},{"issue":"1","key":"10.1016\/j.nmd.2023.01.001_bib0020","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.rmed.2011.07.016","article-title":"Serum myostatin levels and skeletal muscle wasting in chronic obstructive pulmonary disease","volume":"106","author":"Ju","year":"2012","journal-title":"Respir Med"},{"issue":"26","key":"10.1016\/j.nmd.2023.01.001_bib0021","doi-asserted-by":"crossref","first-page":"2682","DOI":"10.1056\/NEJMoa040933","article-title":"Myostatin mutation associated with gross muscle hypertrophy in a child","volume":"350","author":"Schuelke","year":"2004","journal-title":"N Engl J Med"},{"issue":"6628","key":"10.1016\/j.nmd.2023.01.001_bib0022","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/387083a0","article-title":"Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member","volume":"387","author":"McPherron","year":"1997","journal-title":"Nature"},{"issue":"12","key":"10.1016\/j.nmd.2023.01.001_bib0023","doi-asserted-by":"crossref","DOI":"10.3390\/cells9122657","article-title":"The Failed Clinical Story of Myostatin Inhibitors against Duchenne Muscular Dystrophy: exploring the Biology behind the Battle","volume":"9","author":"Rybalka","year":"2020","journal-title":"Cells"},{"issue":"1","key":"10.1016\/j.nmd.2023.01.001_bib0024","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13395-017-0141-y","volume":"7","author":"St Andre","year":"2017","journal-title":"Skelet Muscle"},{"issue":"6914","key":"10.1016\/j.nmd.2023.01.001_bib0025","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1038\/nature01154","article-title":"Functional improvement of dystrophic muscle by myostatin blockade","volume":"420","author":"Bogdanovich","year":"2002","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.nmd.2023.01.001_bib0026","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/s13395-018-0180-z","article-title":"Myostatin and activin blockade by engineered follistatin results in hypertrophy and improves dystrophic pathology in mdx mouse more than myostatin blockade alone","volume":"8","author":"Iskenderian","year":"2018","journal-title":"Skelet Muscle"},{"issue":"10","key":"10.1016\/j.nmd.2023.01.001_bib0027","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1016\/S1357-2725(98)00064-8","volume":"30","author":"Follistatin","year":"1998","journal-title":"Int J Biochem Cell Biol"},{"issue":"11","key":"10.1016\/j.nmd.2023.01.001_bib0028","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1016\/j.nmd.2017.07.001","article-title":"MRC Centre Neuromuscular Biobank (Newcastle and London): supporting and facilitating rare and neuromuscular disease research worldwide","volume":"27","author":"Reza","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.01.001_bib0029","doi-asserted-by":"crossref","DOI":"10.1002\/ana.26044","article-title":"Assessing dysferlinopathy patients over three years with a new motor scale","author":"Jacobs","year":"2021","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2023.01.001_bib0030","unstructured":"Reyngoudt H., Smith F.E., Araujo E.C.A., Wilson I., Torron R.F., James M., et\u00a0al. Three-year quantitative MRI and 31P MRS study in lower limb muscle in dysferlinopathy. under review. 2021."},{"key":"10.1016\/j.nmd.2023.01.001_bib0031","article-title":"Proteomic analysis of the skeletal muscles from dysferlinopathy patients","author":"Choi","year":"2019","journal-title":"J Clin Neurosci"},{"issue":"3","key":"10.1016\/j.nmd.2023.01.001_bib0032","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3233\/JND-190454","article-title":"Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy","volume":"7","author":"Strandberg","year":"2020","journal-title":"J Neuromuscul Dis"},{"issue":"4","key":"10.1016\/j.nmd.2023.01.001_bib0033","doi-asserted-by":"crossref","first-page":"e13328","DOI":"10.15252\/emmm.202013328","article-title":"Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients","volume":"13","author":"Signorelli","year":"2021","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.nmd.2023.01.001_bib0034","doi-asserted-by":"crossref","first-page":"871","DOI":"10.3389\/fphys.2019.00871","article-title":"Circulating irisin and myostatin as markers of muscle strength and physical condition in elderly subjects","volume":"10","author":"Planella-Farrugia","year":"2019","journal-title":"Front Physiol"},{"issue":"3","key":"10.1016\/j.nmd.2023.01.001_bib0035","article-title":"Prognostic usefulness of serum myostatin in advanced chronic liver disease: its relation to gender and correlation with inflammatory status","volume":"70","author":"Skladany","year":"2019","journal-title":"J Physiol Pharmacol"},{"issue":"3","key":"10.1016\/j.nmd.2023.01.001_bib0036","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1213\/ANE.0b013e3181eac1c9","article-title":"Brief-reports: elevated myostatin levels in patients with liver disease: a potential contributor to skeletal muscle wasting","volume":"111","author":"Garc\u00eda","year":"2010","journal-title":"Anesth Analg"},{"issue":"5","key":"10.1016\/j.nmd.2023.01.001_bib0037","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1096\/fj.10-176917","article-title":"Pharmacological inhibition of myostatin suppresses systemic inflammation and muscle atrophy in mice with chronic kidney disease","volume":"25","author":"Zhang","year":"2011","journal-title":"FASEB J"},{"issue":"14","key":"10.1016\/j.nmd.2023.01.001_bib0038","doi-asserted-by":"crossref","DOI":"10.3390\/ijerph18147344","article-title":"Myostatin\/Appendicular Skeletal Muscle Mass (ASM) ratio, not myostatin, is associated with low handgrip strength in community-dwelling older women","volume":"18","author":"Choi","year":"2021","journal-title":"Int J Environ Res Public Health"},{"issue":"20","key":"10.1016\/j.nmd.2023.01.001_bib0039","doi-asserted-by":"crossref","first-page":"5711","DOI":"10.1093\/hmg\/ddv288","article-title":"Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy","volume":"24","author":"Lee","year":"2015","journal-title":"Hum Mol Genet"},{"issue":"18","key":"10.1016\/j.nmd.2023.01.001_bib0040","doi-asserted-by":"crossref","first-page":"3927","DOI":"10.1113\/JP279943","article-title":"Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP-activated protein kinase signalling and poor exercise tolerance in a model of limb-girdle muscular dystrophy R1\/2A","volume":"598","author":"Kramerova","year":"2020","journal-title":"J Physiol"},{"issue":"2","key":"10.1016\/j.nmd.2023.01.001_bib0041","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/mus.27259","article-title":"A phase Ib\/IIa, open-label, multiple ascending-dose trial of domagrozumab in fukutin-related protein limb-girdle muscular dystrophy","volume":"64","author":"Leung","year":"2021","journal-title":"Muscle Nerve"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000019?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000019?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:20Z","timestamp":1760775200000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896623000019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":41,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["S0960896623000019"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.01.001","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.01.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}