Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Ko, Young Jun | - |
dc.contributor.author | Cho, Anna | - |
dc.contributor.author | Kim, Woo Joong | - |
dc.contributor.author | Kim, Soo Yeon | - |
dc.contributor.author | Lim, Byung Chan | - |
dc.contributor.author | Kim, Hunmin | - |
dc.contributor.author | Hwang, Hee | - |
dc.contributor.author | Choi, Ji Eun | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Chae, Jong-Hee | - |
dc.date.accessioned | 2024-07-05T02:30:35Z | - |
dc.date.available | 2024-07-05T02:30:35Z | - |
dc.date.issued | 2023-05 | - |
dc.identifier.issn | 0960-8966 | - |
dc.identifier.issn | 1873-2364 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74614 | - |
dc.description.abstract | α-Dystroglycanopathies are a clinically and genetically heterogeneous group of muscular dystrophies associated with the defective glycosylation of α-dystroglycan (α-DG). Eighteen genes associated with α-dystroglycanopathies have been identified, and the relative prevalence of genetic subtypes varies with ethnicity. Here, we investigated the clinical and genetic characteristics of α-DG-related muscular dystrophy in the Korean pediatric population. We analyzed the clinical characteristics and variant profiles of 42 patients with α-DG-related muscular dystrophies diagnosed by either reduced glycosylation of α-DG and/or genetic confirmation. Genotype-phenotype correlations were explored by a retrospective medical record review. The muscle-eye-brain disease/Fukuyama congenital muscular dystrophy was the most common phenotype (28/42, 66.7%). Homozygous or compound heterozygous variants were detected in 37 patients belonging to 34 unrelated families (37/42; 88.1%). Pathogenic variants were identified in FKTN (n = 24), POMGNT1 (n = 4), GMPPB (n = 4), FKRP (n = 2), POMT1 (n = 2), and ISPD (n = 1). Compound heterozygous retrotransposal insertions and deep-intronic variants in FKTN were the most common genotypes and were associated with severe phenotypes. This study suggests that α-DG-related muscular dystrophy has a wide range of genotypes and phenotypes according to ethnicity. A stratified genetic test according to ethnicity should be considered to diagnose α-DG-related muscular dystrophy. © 2023 Elsevier B.V. | - |
dc.format.extent | 7 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Elsevier Ltd | - |
dc.title | Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center | - |
dc.type | Article | - |
dc.identifier.doi | 10.1016/j.nmd.2023.03.009 | - |
dc.identifier.bibliographicCitation | Neuromuscular Disorders, v.33, no.5, pp 425 - 431 | - |
dc.description.isOpenAccess | N | - |
dc.identifier.wosid | 000993343800001 | - |
dc.identifier.scopusid | 2-s2.0-85152932072 | - |
dc.citation.endPage | 431 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 425 | - |
dc.citation.title | Neuromuscular Disorders | - |
dc.citation.volume | 33 | - |
dc.type.docType | Article | - |
dc.publisher.location | 영국 | - |
dc.subject.keywordAuthor | Alpha dystroglycanopathy | - |
dc.subject.keywordAuthor | Genotype | - |
dc.subject.keywordAuthor | Muscular dystrophy | - |
dc.subject.keywordAuthor | Phenotype | - |
dc.subject.keywordPlus | DEFECTIVE GLYCOSYLATION | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | GENETICS | - |
dc.subject.keywordPlus | PATIENT | - |
dc.subject.keywordPlus | FUKUTIN | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Neurosciences | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
84, Heukseok-ro, Dongjak-gu, Seoul, Republic of Korea (06974)02-820-6194
COPYRIGHT 2019 Chung-Ang University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.