Pavone L, Mollica F, Grasso A, Pero G
Acta Neurol Scand. 1980 Jul;62(1):33-40. doi: 10.1111/j.1600-0404.1980.tb03001.x.
A girl with typical clinical and histologic features of centronuclear myopathy (CNM) is described. The electromyogram was clearly of myopathic type; the motor conduction velocity was reduced. The analysis of the pedigree, in which three other members were similarly affected, suggests autosomal dominant inheritance with low penetrance.
本文描述了一名具有典型中央核肌病(CNM)临床和组织学特征的女孩。肌电图明显呈肌病型;运动传导速度降低。对家系的分析表明,另外三名成员也有类似症状,提示为外显率低的常染色体显性遗传。