{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:48:25Z","timestamp":1784555305987,"version":"3.55.0"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T00:00:00Z","timestamp":1529452800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["AR048816"],"award-info":[{"award-number":["AR048816"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,9,15]]},"DOI":"10.1093\/hmg\/ddy233","type":"journal-article","created":{"date-parts":[[2018,6,14]],"date-time":"2018-06-14T23:17:13Z","timestamp":1529018233000},"page":"3272-3282","source":"Crossref","is-referenced-by-count":38,"title":["TNNT1 nemaline myopathy: natural history and therapeutic frontier"],"prefix":"10.1093","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1297-6935","authenticated-orcid":false,"given":"Michael D","family":"Fox","sequence":"first","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA, USA"},{"name":"Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA"},{"name":"Diagnostic Referral Division, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent J","family":"Carson","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han-Zhong","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Physiology, Wayne State University School of Medicine, Detroit, MI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael W","family":"Lawlor","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine and Neuroscience Research Center, The Medical College of Wisconsin, Milwaukee, WI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John T","family":"Gray","sequence":"additional","affiliation":[{"name":"Audentes Therapeutics, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karlla W","family":"Brigatti","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J -P","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Physiology, Wayne State University School of Medicine, Detroit, MI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin A","family":"Strauss","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,6,20]]},"reference":[{"key":"key\n\t\t\t\t20180904035117_ddy233-B1","first-page":"614","article-title":"Nemaline myopathies: state of the art","volume":"172","author":"Malfatti","year":"2016","journal-title":"Rev. Neurol. (Paris)"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B2","first-page":"307","article-title":"\u2018An artefact gone awry\u2019: identification of the first case of nemaline myopathy by Dr R.D.K. Reye","volume":"10","author":"Schnell","year":"2000","journal-title":"Neuromuscul. Disord"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B3","first-page":"461","article-title":"The prognostic value of the muscle biopsy in the floppy infant","volume":"81","author":"Greenfield","year":"1958","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B4","first-page":"793","article-title":"Nemaline myopathy. A new congenital myopathy","volume":"86","author":"Shy","year":"1963","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B5","first-page":"23.","article-title":"Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy","volume":"1","author":"Lawlor","year":"2011","journal-title":"Skelet Muscle"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B6","first-page":"5219","article-title":"Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy","volume":"24","author":"Li","year":"2015","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B7","first-page":"1367","article-title":"Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue","volume":"592","author":"Wei","year":"2014","journal-title":"J. Physiol"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B8","first-page":"312","article-title":"Nemaline myopathy: a clinical study of 143 cases","volume":"50","author":"Ryan","year":"2001","journal-title":"Ann. Neurol"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B9","first-page":"564","article-title":"Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)","volume":"53","author":"Abdulhaq","year":"2016","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B10","first-page":"678","article-title":"Novel autosomal dominant TNNT1 mutation causing nemaline myopathy","volume":"5","author":"Konersman","year":"2017","journal-title":"Mol. Genet. Genomic Med"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B11","first-page":"705","article-title":"Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy","volume":"34","author":"North","year":"1997","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B12","first-page":"e140.","article-title":"Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark","volume":"3","author":"Witting","year":"2017","journal-title":"Neurol. Genet"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B13","first-page":"814","article-title":"A novel nemaline myopathy in the Amish caused by a mutation in troponin T1","volume":"67","author":"Johnston","year":"2000","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B14","first-page":"134","article-title":"Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree","volume":"2","author":"van der Pol","year":"2014","journal-title":"Mol. Genet. Genomic Med"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B15","first-page":"767","article-title":"Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish","volume":"51","author":"Marra","year":"2015","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B16","first-page":"386","article-title":"Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population","volume":"91","author":"Fattahi","year":"2017","journal-title":"Clin. Genet"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B17","first-page":"449.","article-title":"Protein structure-function relationship at work: learning from myopathy mutations of the slow skeletal muscle isoform of troponin T","volume":"7","author":"Mondal","year":"2016","journal-title":"Front. Physiol"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B18","first-page":"1","article-title":"TNNT1, TNNT2, and TNNT3: isoform genes, regulation, and structure-function relationships","volume":"582","author":"Wei","year":"2016","journal-title":"Gene"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B19","first-page":"26159","article-title":"Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy","volume":"278","author":"Jin","year":"2003","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B20","first-page":"13241","article-title":"Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in Amish nemaline myopathy","volume":"280","author":"Wang","year":"2005","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B21","first-page":"839","article-title":"Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs","volume":"25","author":"Mack","year":"2017","journal-title":"Mol. Ther"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B22","first-page":"220ra10.","article-title":"Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy","volume":"6","author":"Childers","year":"2014","journal-title":"Sci. Transl. Med"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B23","author":"Amish Population"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B24","first-page":"513","article-title":"Genetics, medicine, and the Plain people","volume":"10","author":"Strauss","year":"2009","journal-title":"Annu. Rev. Genomics Hum. Genet"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B25","first-page":"80","article-title":"Effect of genome size on AAV vector packaging","volume":"18","author":"Wu","year":"2010","journal-title":"Mol. Ther"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B26","first-page":"1300","article-title":"One community's effort to control genetic disease","volume":"102","author":"Strauss","year":"2012","journal-title":"Am. J. Public Health"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B27","first-page":"535","article-title":"Nemaline myopathy. The origin of nemaline structures","volume":"274","author":"Gonatas","year":"1966","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B28","first-page":"424","article-title":"Nemaline rods in canine myopathies: 4 case reports and literature review","volume":"12","author":"Delauche","year":"1998","journal-title":"J. Vet. Intern. Med"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B29","first-page":"537","article-title":"Myopathy with tubulin-reactive inclusions in two cats","volume":"114","author":"Shelton","year":"2007","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B30","first-page":"188","article-title":"Congenital myopathy with abundant nemaline rods in a cat","volume":"16","author":"Kube","year":"2006","journal-title":"Neuromuscul. Disord"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B31","first-page":"618","article-title":"Nemaline myopathy of cats","volume":"9","author":"Cooper","year":"1986","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B32","first-page":"155","article-title":"Hereditary Occurrence of Nemaline Myopathy","volume":"13","author":"Spiro","year":"1965","journal-title":"Arch Neurol"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B33","first-page":"345","article-title":"Effects of different activity and inactivity paradigms on myosin heavy chain gene expression in striated muscle","volume":"90","author":"Baldwin","year":"2001","journal-title":"J. Appl. Physiol. (1985)"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B34","first-page":"247","article-title":"High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene","volume":"33","author":"Olsen","year":"2010","journal-title":"J. Inherit. Metab. Dis"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B35","first-page":"943","article-title":"Long-term effects of systemic gene therapy in a canine model of myotubular myopathy","volume":"56","author":"Elverman","year":"2017","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B36","first-page":"15089.","article-title":"AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe disease","volume":"7","author":"Gatto","year":"2017","journal-title":"Sci. Rep"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B37","first-page":"855","article-title":"Systemic AAV-mediated beta-sarcoglycan delivery targeting cardiac and skeletal muscle ameliorates histological and functional deficits in LGMD2E mice","volume":"25","author":"Pozsgai","year":"2017","journal-title":"Mol. Ther"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B38","first-page":"1082","article-title":"Single intramuscular injection of AAV-shRNA reduces DNM2 and prevents myotubular myopathy in mice","volume":"26","author":"Tasfaout","year":"2018","journal-title":"Mol. Ther"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B39","first-page":"1952","article-title":"AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression","volume":"26","author":"Gicquel","year":"2017","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B40","first-page":"1429","article-title":"Dystrophin immunity in Duchenne's muscular dystrophy","volume":"363","author":"Mendell","year":"2010","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B41","first-page":"1058","article-title":"Preclinical differences of intravascular AAV9 delivery to neurons and glia: a comparative study of adult mice and nonhuman primates","volume":"19","author":"Gray","year":"2011","journal-title":"Mol. Ther"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B42","first-page":"597","article-title":"Monoclonal antibodies against cardiac myosin heavy chain","volume":"9","author":"Jin","year":"1990","journal-title":"Hybridoma"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B43","first-page":"2623","article-title":"The highly conserved COOH terminus of troponin I forms a Ca2+-modulated allosteric domain in the troponin complex","volume":"40","author":"Jin","year":"2001","journal-title":"Biochemistry"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B44","first-page":"C1067","article-title":"Conformational modulation of slow skeletal muscle troponin T by an NH(2)-terminal metal-binding extension","volume":"279","author":"Jin","year":"2000","journal-title":"Am. J. Physiol. Cell Physiol"},{"key":"key\n\t\t\t\t20180904035117_ddy233-B45","first-page":"834","article-title":"Improved fatigue resistance in Gsalpha-deficient and aging mouse skeletal muscles due to adaptive increases in slow fibers","volume":"111","author":"Feng","year":"2011","journal-title":"J. Appl. Physiol. (1985)"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/18\/3272\/25643365\/ddy233.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,9,4]],"date-time":"2018-09-04T03:51:34Z","timestamp":1536033094000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/27\/18\/3272\/5040782"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,20]]},"references-count":45,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2018,6,20]]},"published-print":{"date-parts":[[2018,9,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy233","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,9]]},"published":{"date-parts":[[2018,6,20]]}}}