Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cho Anna | - |
dc.contributor.author | Kim Soo Yeon | - |
dc.contributor.author | Lee Jin Sook | - |
dc.contributor.author | Lim Byung Chan | - |
dc.contributor.author | Kim Hunmin | - |
dc.contributor.author | Hwang Hee | - |
dc.contributor.author | Chae Jong-Hee | - |
dc.date.available | 2020-12-31T05:40:06Z | - |
dc.date.created | 2020-12-31 | - |
dc.date.issued | 2020-12 | - |
dc.identifier.issn | 1226-1769 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/79551 | - |
dc.description.abstract | Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion: We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | 대한의학유전학회 | - |
dc.relation.isPartOf | Journal of Genetic Medicine | - |
dc.title | Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center | - |
dc.title.alternative | Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 2 | - |
dc.identifier.doi | 10.5734/JGM.2020.17.2.73 | - |
dc.identifier.bibliographicCitation | Journal of Genetic Medicine, v.17, no.2, pp.73 - 78 | - |
dc.identifier.kciid | ART002665637 | - |
dc.description.isOpenAccess | N | - |
dc.citation.endPage | 78 | - |
dc.citation.startPage | 73 | - |
dc.citation.title | Journal of Genetic Medicine | - |
dc.citation.volume | 17 | - |
dc.citation.number | 2 | - |
dc.contributor.affiliatedAuthor | Lee Jin Sook | - |
dc.subject.keywordAuthor | Congenital myasthenic syndrome | - |
dc.subject.keywordAuthor | Therapeutic effect | - |
dc.subject.keywordAuthor | Next generation sequencing | - |
dc.description.journalRegisteredClass | kci | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
1342, Seongnam-daero, Sujeong-gu, Seongnam-si, Gyeonggi-do, Republic of Korea(13120)031-750-5114
COPYRIGHT 2020 Gachon 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.