{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:15:54Z","timestamp":1791342954069,"version":"4.3.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":352,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2012,8]]},"DOI":"10.1016\/j.ajhg.2012.06.012","type":"journal-article","created":{"date-parts":[[2012,7,19]],"date-time":"2012-07-19T13:17:22Z","timestamp":1342703842000},"page":"365-371","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":99,"title":["Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores"],"prefix":"10.1016","volume":"91","author":[{"given":"Karen","family":"Majczenko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann\u00a0E.","family":"Davidson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Camelo-Piragua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj\u00a0B.","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard\u00a0A.","family":"Manfready","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingli","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sucheta","family":"Joshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jishu","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiping","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan\u00a0H.","family":"Beggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u00a0Z.","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margit","family":"Burmeister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James\u00a0J.","family":"Dowling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2012.06.012_bib1","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/ana.22510","article-title":"Prevalence of congenital myopathies in a representative pediatric united states population","volume":"70","author":"Amburgey","year":"2011","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2012.06.012_bib2","series-title":"Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician\u2019s Approach","author":"Jones","year":"2003"},{"key":"10.1016\/j.ajhg.2012.06.012_bib3","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/1750-1172-2-31","article-title":"Multi-minicore Disease","volume":"2","author":"Jungbluth","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2012.06.012_bib4","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/1750-1172-2-25","article-title":"Central core disease","volume":"2","author":"Jungbluth","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2012.06.012_bib5","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.spen.2011.10.004","article-title":"Nemaline myopathies","volume":"18","author":"Wallgren-Pettersson","year":"2011","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.ajhg.2012.06.012_bib6","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1750-1172-3-26","article-title":"Centronuclear (myotubular) myopathy","volume":"3","author":"Jungbluth","year":"2008","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2012.06.012_bib7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s11910-012-0255-x","article-title":"Congenital myopathies: an update","volume":"12","author":"Nance","year":"2012","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"10.1016\/j.ajhg.2012.06.012_bib8","doi-asserted-by":"crossref","unstructured":"Jungbluth, H., Dowling, J.J., Ferreiro, A., and Muntoni, F. (2012). 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Neuromuscul Disord. 22, 453\u2013462.","DOI":"10.1016\/j.nmd.2011.12.003"},{"key":"10.1016\/j.ajhg.2012.06.012_bib9","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1365-2990.2010.01149.x","article-title":"Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization","volume":"37","author":"Bevilacqua","year":"2011","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"10.1016\/j.ajhg.2012.06.012_bib10","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.nmd.2009.06.373","article-title":"164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands","volume":"19","author":"Jungbluth","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2012.06.012_bib11","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s00401-010-0754-2","article-title":"Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies","volume":"121","author":"Toussaint","year":"2011","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2012.06.012_bib12","doi-asserted-by":"crossref","first-page":"14697","DOI":"10.1073\/pnas.1003677107","article-title":"MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers","volume":"107","author":"Beggs","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2012.06.012_bib13","doi-asserted-by":"crossref","first-page":"e1000372","DOI":"10.1371\/journal.pgen.1000372","article-title":"Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy","volume":"5","author":"Dowling","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2012.06.012_bib14","doi-asserted-by":"crossref","first-page":"18763","DOI":"10.1073\/pnas.0900705106","article-title":"T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase","volume":"106","author":"Al-Qusairi","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2012.06.012_bib15","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1016\/j.ajpath.2011.01.054","article-title":"Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness","volume":"178","author":"Cowling","year":"2011","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ajhg.2012.06.012_bib16","doi-asserted-by":"crossref","first-page":"4820","DOI":"10.1093\/hmg\/ddq413","article-title":"A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice","volume":"19","author":"Durieux","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2012.06.012_bib17","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","article-title":"Exome sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2012.06.012_bib18","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ajhg.2011.01.001","article-title":"Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa","volume":"88","author":"Z\u00fcchner","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2012.06.012_bib19","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ajhg.2011.01.016","article-title":"Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy","volume":"88","author":"Norton","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2012.06.012_bib20","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1038\/ng.662","article-title":"Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy","volume":"42","author":"Otto","year":"2010","journal-title":"Nat.\u00a0Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712003217?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712003217?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:11:09Z","timestamp":1757574669000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929712003217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["S0002929712003217"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.06.012","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2012,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.06.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}