Heckmann J M, Carr J A, Bell N
Neurology Unit, Groote Schuur Hospital, South Africa.
Neurology. 1995 Jul;45(7):1405-8. doi: 10.1212/wnl.45.7.1405.
We report the clinical and electrophysiologic data on five subjects from two families with severe sensory and autonomic neuropathy who also exhibited peroneal muscular atrophy with the electrophysiologic features of an axonopathy, congenital cataracts, mental retardation, and skin lesions. One patient had hearing loss. Autosomal recessive inheritance was probable in both families.
我们报告了来自两个家族的五名患者的临床和电生理数据,这些患者患有严重的感觉和自主神经病变,同时还表现出具有轴索性神经病电生理特征的腓骨肌萎缩、先天性白内障、智力障碍和皮肤病变。一名患者有听力损失。两个家族均可能为常染色体隐性遗传。