Torres C F, Griggs R C, Goetz J P
Arch Neurol. 1985 Oct;42(10):1011-4. doi: 10.1001/archneur.1985.04060090093023.
We studied a boy with severe infantile centronuclear myopathy (CNM) and his mother with clinical, electrophysiological, and pathological signs of skeletal muscle, peripheral nerve, and brain-stem disorder, and we believe that her condition represents a variation of her son's disease. His brother had similar symptoms and died at 4 days of age. The occurrence of this syndrome in a symptomatic mother and two severely affected sons suggests an autosomal dominant inheritance with variable expressivity. To our knowledge, this inheritance pattern has not been previously reported in severe (fatal) infantile CNM. The different courses in the mother and her offspring may be manifestations of a single or separate abnormal gene causing alteration of muscle and nerve maturation.
我们研究了一名患有严重婴儿期中央核肌病（CNM）的男孩及其母亲，其母亲有骨骼肌、周围神经和脑干疾病的临床、电生理及病理体征，我们认为她的病情是其儿子疾病的一种变异形式。他的弟弟有类似症状，于4日龄时死亡。这种综合征在有症状的母亲和两个严重受累儿子身上出现，提示为常染色体显性遗传，表现度可变。据我们所知，这种遗传模式此前在严重（致死性）婴儿期CNM中尚未见报道。母亲与其后代不同的病程可能是单个或不同异常基因导致肌肉和神经成熟改变的表现。
