J Clin Neurol.  2018 Jan;14(1):58-65. 10.3988/jcn.2018.14.1.58.

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

Affiliations
  • 1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
  • 2Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
  • 3Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
  • 4Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul, Korea.

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.

Keyword

myopathy; RYR1; ryanodine receptor 1; central core disease
Full Text Links
  • JCN
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2021 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr