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

 Ha Neul Jeong  ;  Hyung Jun Park  ;  Jung Hwan Lee  ;  Ha Young Shin  ;  Se Hoon Kim  ;  Seung Min Kim  ;  Young Chul Choi 
 Journal of Clinical Neurology, Vol.14(1) : 58-65, 2018 
Journal Title
 Journal of Clinical Neurology 
Issue Date
RYR1 ; central core disease ; myopathy ; ryanodine receptor 1
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.
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1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
이정환(Lee, Jung Hwan)
정하늘(Jeong, Ha Neul) ORCID logo https://orcid.org/0000-0002-5785-116X
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
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