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Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy

Title
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy
Authors
Jeong, Ha-NeulPark, Hyung JunLee, Jung HwanShin, Ha YoungKim, Se HoonKim, Seung MinChoi, Young-Chul
Ewha Authors
박형준
SCOPUS Author ID
박형준scopusscopus
Issue Date
2018
Journal Title
JOURNAL OF CLINICAL NEUROLOGY
ISSN
1738-6586JCR Link2005-5013JCR Link
Citation
vol. 14, no. 1, pp. 58 - 65
Keywords
myopathyRYR1ryanodine receptor 1central core disease
Publisher
KOREAN NEUROLOGICAL ASSOC
Indexed
SCIE; SCOPUS; KCI WOS
Abstract
Background and Purpose This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). Methods Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. Their clinical, mutational, and pathologic findings were then analyzed. Results Seven different mutations were identified, including two novel mutations: c.5915A > T and c.12250C > T. All of the patients presented at infancy with proximal dominant weakness and delayed motor milestones. Other clinical findings were scoliosis in three patients, winged scapula in two, hip dislocation in one, and pectus excavatum in one. Ophthalmoplegia was observed in one patient with a novel recessive mutation. Two of three muscle specimens revealed a myopathic pattern with core. Conclusions We have identified a novel compound heterozygous RYR1 mutation and demonstrated clinical and pathologic findings in five Korean patients with RYR1-related CM.
DOI
10.3988/jcn.2018.14.1.58
Appears in Collections:
의료원 > 의료원 > Journal papers
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