Nakamura Kenichiro, Matsuda Takao, Hanaoka Takuya, Goto Katsumasa, Matsubara Etsuro
Department of Neurology, Nishibeppu National Hospital.
Department of Reproductive Medicine and Genetics, Nishibeppu National Hospital.
Rinsho Shinkeigaku. 2021 Oct 28;61(10):663-670. doi: 10.5692/clinicalneurol.cn-001610. Epub 2021 Sep 25.
Laminopathy, caused by mutations in the LMNA gene, include a variety of diseases, such as Emery-Dreifuss muscular dystrophy. A Japanese woman developed progressive muscle weakness, muscle atrophy and joint contractures of upper and lower limbs after the age of two years old. She had restrictive respiratory dysfunction, and developed both supraventricular and ventricular arrhythmias after the fourth decade of life. At 55 years old, she had tracheostomy, required mechanical ventilation and was implanted with the implantable cardioverter defibrillator. The serum level of creatine kinase was within normal range. Electromyography showed polyphasic or large motor unit potentials and reduced interference pattern, while relatively normal recruitment. The exome analysis of disease-related genes revealed a heterozygous pathogenic variant c.1072G>A (p.E358K) in the LMNA gene, which contributed to the diagnosis of laminopathy.
由LMNA基因突变引起的核纤层蛋白病包括多种疾病，如埃默里-德雷福斯肌营养不良症。一名日本女性在两岁后出现进行性肌肉无力、肌肉萎缩以及上下肢关节挛缩。她存在限制性呼吸功能障碍，在40岁后出现室上性和室性心律失常。55岁时，她接受了气管切开术，需要机械通气，并植入了植入式心律转复除颤器。肌酸激酶的血清水平在正常范围内。肌电图显示多相或大运动单位电位以及干扰图形减少，而募集相对正常。对疾病相关基因的外显子组分析揭示了LMNA基因中一个杂合的致病性变异c.1072G>A（p.E358K），这有助于核纤层蛋白病的诊断。
