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

  • 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.


AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM).
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.
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.
We have identified a novel compound heterozygous RYR1 mutation and demonstrated clinical and pathologic findings in five Korean patients with RYR1-related CM.


myopathy; RYR1; ryanodine receptor 1; central core disease
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