{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:15:56Z","timestamp":1791468956345,"version":"4.3.4"},"reference-count":16,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2013,7]]},"DOI":"10.1016\/j.nmd.2013.04.002","type":"journal-article","created":{"date-parts":[[2013,5,18]],"date-time":"2013-05-18T17:19:24Z","timestamp":1368897564000},"page":"549-556","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"title":["Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype"],"prefix":"10.1016","volume":"23","author":[{"given":"Ros","family":"Quinlivan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satomi","family":"Mitsuahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Sewry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebahattin","family":"Cirak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chieko","family":"Aoyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Mooore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Abbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Robb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Newton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Moss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Birchall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Sugimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Bushby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Guglieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2013.04.002_b0005","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/(SICI)1097-4598(199801)21:1<40::AID-MUS6>3.0.CO;2-G","article-title":"A new congenital muscular dystrophy with mitochondrial structural abnormalities","volume":"21","author":"Nishino","year":"1998","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2013.04.002_b0010","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.ajhg.2011.05.010","article-title":"A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis","volume":"88","author":"Mitsuhashi","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.nmd.2013.04.002_b0015","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1001\/archneurol.2011.2333","article-title":"Congenital megacolonial myopathy due to a novel defect in the choline kinase beta gene","volume":"69","author":"Rios","year":"2012","journal-title":"Arch Neurol"},{"key":"10.1016\/j.nmd.2013.04.002_b0020","series-title":"Molecular biology of the cell","author":"Alberts","year":"2002"},{"issue":"266\u201381","key":"10.1016\/j.nmd.2013.04.002_b0025","first-page":"1","article-title":"Structure and function of choline kinase isoforms in mammalian cells","volume":"43","author":"Aoyama","year":"2004","journal-title":"Prog Lipid Res"},{"key":"10.1016\/j.nmd.2013.04.002_b0030","series-title":"Biochemistry of lipids, lipoproteins and membranes","author":"Vance","year":"2002"},{"key":"10.1016\/j.nmd.2013.04.002_b0035","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1074\/jbc.M708766200","article-title":"Early embryonic lethality caused by disruption of the gene for choline kinase alpha, the first enzyme in posphatidylcholine biosynthesis","volume":"283","author":"Wu","year":"2008","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2013.04.002_b0040","doi-asserted-by":"crossref","first-page":"4938","DOI":"10.1074\/jbc.M512578200","article-title":"A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidyl choline biosynthesis","volume":"281","author":"Sher","year":"2006","journal-title":"J Biol Chem"},{"issue":"2","key":"10.1016\/j.nmd.2013.04.002_b0085","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/S0163-7827(03)00051-1","article-title":"Enzymes of triacylglycerol synthesis and their regulation","volume":"43","author":"Coleman","year":"2004","journal-title":"Prog Lipid Res"},{"issue":"261\u2013264","key":"10.1016\/j.nmd.2013.04.002_b0050","first-page":"1","article-title":"Ichthyosiform dermatosis with systemic lipidosis","volume":"110","author":"Dorfman","year":"1974","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.nmd.2013.04.002_b0055","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1750-1172-5-33","article-title":"Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene","volume":"5","author":"Redaelli","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2013.04.002_b0060","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1136\/bmj.1.5957.553","article-title":"Neutral-lipid storage disease: a new disorder of lipid metabolism","volume":"1","author":"Chanarin","year":"1975","journal-title":"BMJ"},{"issue":"1","key":"10.1016\/j.nmd.2013.04.002_b0065","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1038\/ng1951","article-title":"The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy","volume":"39","author":"Fischer","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2013.04.002_b0070","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/j.0954-6820.1953.tb07038.x","article-title":"The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia muscularum progressiva","volume":"146","author":"Jordans","year":"1953","journal-title":"Acta Med Scand"},{"issue":"21","key":"10.1016\/j.nmd.2013.04.002_b0075","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1212\/01.wnl.0000346518.68110.60","article-title":"Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study","volume":"72","author":"Mercuri","year":"2009","journal-title":"Neurology"},{"issue":"3\u20134","key":"10.1016\/j.nmd.2013.04.002_b0080","first-page":"79","article-title":"Updated molecular genetics and pathogenesis of ichthyoses","volume":"73","author":"Akiyama","year":"2011","journal-title":"Nagoya J Med Sci"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896613001181?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896613001181?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:01:17Z","timestamp":1760774477000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896613001181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7]]},"references-count":16,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["S0960896613001181"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2013.04.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2013.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown copyright \u00a9 2013 Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}