Galassi G, Rowland L P, Hays A P, Hopkins L C, DiMauro S
Muscle Nerve. 1987 May;10(4):346-50. doi: 10.1002/mus.880100411.
Two brothers and an unrelated man had serum creatine kinase values of 3000-8000 units when they were asymptomatic, and there was no weakness on examination. EMG and muscle biopsy showed changes indicative of myopathy. Years later, all three developed weakness that was limited to the gastrocnemius. Because siblings were affected, the disorder can be regarded as a form of muscular dystrophy. The distribution of weakness, serum enzyme changes, and histologic changes resembled an autosomal recessive distal myopathy first described by Miyoshi and differed from many other reported cases of distal myopathy. Our cases also indicate that myopathy may be asymptomatic.
两名兄弟和一名无血缘关系的男子在无症状时血清肌酸激酶值为3000 - 8000单位，检查时无肌无力表现。肌电图和肌肉活检显示有提示肌病的改变。数年后，三人都出现了仅局限于腓肠肌的肌无力。由于同胞受累，该疾病可被视为一种肌肉萎缩症。肌无力的分布、血清酶变化和组织学变化类似于Miyoshi首次描述的常染色体隐性遗传性远端肌病，与许多其他报道的远端肌病病例不同。我们的病例还表明，肌病可能是无症状的。
