Jeong Ha Neul, Park Hyung Jun, Lee Jung Hwan, Shin Ha Young, Kim Se Hoon, Kim Seung Min, Choi Young Chul
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
J Clin Neurol. 2018 Jan;14(1):58-65. doi: 10.3988/jcn.2018.14.1.58.
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.
本研究旨在调查5例韩国RYR1相关先天性肌病（CM）患者的临床和病理特征。
通过对RYR1进行直接测序或靶向测序，确诊了来自非相关家庭的5例患者患有RYR1相关CM。然后分析了他们的临床、突变和病理结果。
鉴定出7种不同的突变，包括2种新突变：c.5915A>T和c.12250C>T。所有患者在婴儿期均表现为近端为主的肌无力和运动发育迟缓。其他临床发现包括3例脊柱侧凸、2例翼状肩胛、1例髋关节脱位和1例漏斗胸。1例具有新的隐性突变的患者出现眼肌麻痹。3例肌肉标本中有2例显示有核心的肌病模式。
我们鉴定出一种新的复合杂合RYR1突变，并展示了5例韩国RYR1相关CM患者的临床和病理结果。
