Pépin B, Mikol J, Goldstein B, Haguenau M, Godlewski S
Rev Neurol (Paris). 1976 Dec;132(12):845-57.
Two adult cases of centronuclear myopathy are described in a family from French Guyana. One of them, aged 23, has a slight weakness despite hypertrophic muscles. A typical picture of centronuclear myopathy was seen on muscle biopsy with atrophy of type I fibers and hypertrophy of II A fibers. His uncle, aged 53, had a progressive weakness of the lower limbs for the last 25 years, with also a pattern of centronuclear myopathy, but with more dystrophic features and atrophy of both type I and II A fibers. The mode of inheritance is dominant. These two cases are compared with the previously published reports. The pathogenesis of centronuclear myopathy is discussed.
本文描述了法属圭亚那一个家族中的两例成年中央核性肌病病例。其中一例23岁，尽管肌肉肥大，但仍有轻微肌无力。肌肉活检显示典型的中央核性肌病表现，I型纤维萎缩，II A型纤维肥大。他53岁的叔叔在过去25年中出现进行性下肢肌无力，也表现为中央核性肌病模式，但具有更多营养不良特征，I型和II A型纤维均萎缩。遗传方式为显性。将这两例病例与先前发表的报告进行了比较。并讨论了中央核性肌病的发病机制。
