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.
Bibliographical noteFunding Information:
All variants were classified according to the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines.11 We filtered polymorphisms found in the Korean population (n=298) while also using public databases [dbSNP 135 and 1000 Genome project SNP (2014 October release)] from East Asian, South Asian, and all-population databases. Deleterious effects of the variants were supported by multiple lines of computational evi-
All Science Journal Classification (ASJC) codes
- Clinical Neurology