{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:52:21Z","timestamp":1781081541630,"version":"3.54.1"},"reference-count":27,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"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":[[2023,5]]},"DOI":"10.1016\/j.nmd.2023.03.009","type":"journal-article","created":{"date-parts":[[2023,3,23]],"date-time":"2023-03-23T18:36:05Z","timestamp":1679596565000},"page":"425-431","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Broad spectrum of phenotype and genotype in Korean \u03b1-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center"],"prefix":"10.1016","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1680-720X","authenticated-orcid":false,"given":"Young Jun","family":"Ko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7500-5955","authenticated-orcid":false,"given":"Anna","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Woo Joong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo Yeon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hunmin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee","family":"Hwang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Eun","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Hee","family":"Chae","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2023.03.009_bib0001","doi-asserted-by":"crossref","first-page":"6930","DOI":"10.1074\/jbc.R112.438978","article-title":"The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy","volume":"288","author":"Wells","year":"2013","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2023.03.009_bib0002","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1093\/brain\/awm212","article-title":"Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan","volume":"130","author":"Godfrey","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2023.03.009_bib0003","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/nature00837","article-title":"Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies","volume":"418","author":"Michele","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2023.03.009_bib0004","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.nmd.2017.06.008","article-title":"Congenital muscular dystrophies in the UK population: clinical and molecular spectrum of a large cohort diagnosed over a 12-year period","volume":"27","author":"Sframeli","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.03.009_bib0005","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1212\/WNL.0000000000001303","article-title":"Prevalence of congenital muscular dystrophy in Italy: a population study","volume":"84","author":"Graziano","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2023.03.009_bib0006","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/cge.13886","article-title":"Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients","volume":"99","author":"Song","year":"2021","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2023.03.009_bib0007","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.nmd.2010.06.005","article-title":"Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea","volume":"20","author":"Lim","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.03.009_bib0008","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/j.nmd.2018.08.001","article-title":"National registry of patients with Fukuyama congenital muscular dystrophy in Japan","volume":"28","author":"Ishigaki","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.03.009_bib0009","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.gde.2011.02.001","article-title":"Dystroglycanopathies: coming into focus","volume":"21","author":"Godfrey","year":"2011","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.nmd.2023.03.009_bib0010","doi-asserted-by":"crossref","first-page":"e115","DOI":"10.1136\/jmg.2004.020701","article-title":"POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease","volume":"41","author":"Diesen","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2023.03.009_bib0011","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1093\/hmg\/8.12.2303","article-title":"Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)","volume":"8","author":"Kondo-Iida","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2023.03.009_bib0012","doi-asserted-by":"crossref","first-page":"121","DOI":"10.3988\/jcn.2016.12.1.121","article-title":"First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy","volume":"12","author":"Park","year":"2016","journal-title":"J Clin Neurol"},{"key":"10.1016\/j.nmd.2023.03.009_bib0013","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jns.2009.02.373","article-title":"Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy","volume":"281","author":"Lee","year":"2009","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2023.03.009_bib0014","unstructured":"Online Mendelian Inheritance in Man. (2022). https:\/\/omim.org\/"},{"key":"10.1016\/j.nmd.2023.03.009_bib0015","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2023.03.009_bib0016","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1002\/ajmg.a.30978","article-title":"Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations","volume":"138","author":"Watanabe","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.nmd.2023.03.009_bib0017","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1111\/cge.13903","article-title":"Genetic diagnosis of infantile-onset epilepsy in the clinic: application of whole-exome sequencing following epilepsy gene panel testing","volume":"99","author":"Kim","year":"2021","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2023.03.009_bib0018","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.nmd.2012.05.006","article-title":"Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency","volume":"22","author":"Pane","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.03.009_bib0019","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1002\/acn3.649","article-title":"Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients","volume":"5","author":"Nallamilli","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.nmd.2023.03.009_bib0020","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/cge.13597","article-title":"Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy","volume":"96","author":"Winckler","year":"2019","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2023.03.009_bib0021","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.braindev.2007.05.012","article-title":"Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy","volume":"30","author":"Yoshioka","year":"2008","journal-title":"Brain Dev"},{"key":"10.1016\/j.nmd.2023.03.009_bib0022","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1038\/jhg.2017.71","article-title":"Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan","volume":"62","author":"Kobayashi","year":"2017","journal-title":"J Hum Genet"},{"key":"10.1016\/j.nmd.2023.03.009_bib0023","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0387-7604(94)00101-3","article-title":"Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study","volume":"17","author":"Pihko","year":"1995","journal-title":"Brain Dev"},{"key":"10.1016\/j.nmd.2023.03.009_bib0024","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1093\/hmg\/ddw022","article-title":"Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa","volume":"25","author":"Xu","year":"2016","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2023.03.009_bib0025","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/ana.24687","article-title":"Diagnosis and etiology of congenital muscular dystrophy: we are halfway there","volume":"80","author":"O'Grady","year":"2016","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2023.03.009_bib0026","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.mrrev.2018.09.002","article-title":"Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies","volume":"778","author":"Hu","year":"2018","journal-title":"Mut Res Rev Mutat Res"},{"key":"10.1016\/j.nmd.2023.03.009_bib0027","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.nmd.2013.12.011","article-title":"Diagnostic approach to the congenital muscular dystrophies","volume":"24","author":"B\u00f6nnemann","year":"2014","journal-title":"Neuromuscul Disord"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000755?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000755?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:38Z","timestamp":1760775218000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896623000755"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S0960896623000755"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.03.009","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Broad spectrum of phenotype and genotype in Korean \u03b1-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.03.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}