Ferrer X, Vital C, Coquet M, Deleplanque B, Ellie E, Lagueny A, Julien J
Service de Neurologie, Hôpital du Haut-Lévêque, Pessac.
Rev Neurol (Paris). 1992;148(10):622-30.
In a family 6 members in 3 generations were affected by centronuclear myopathy (CNM) of autosomal dominant inheritance. The apparent onset was in the early forties and the disease progressed slowly. Limb weakness was predominant. Strabismus was present in 5 cases and calves hypertrophy in 3. Serum creatinine kinase was always within the normal range. In one case myotonic bursts were found at electromyography. In 2 cases brain stem auditory evoked potential studies demonstrated abnormal prolongation of interpeak latencies I-III and favoured subclinical nervous system involvement. Muscular biopsies showed typical features of centronuclear myopathy with 50 to 80% central nuclei. In two cases immunocytochemical labelling of dystrophin showed staining in the sarcoplasm in favour of an arrest in the morphogenesis of developing myofiber. Others families with autosomal dominant CNM in the literature and also some sporadic adult cases had similar clinical features.
在一个家族中，3代6名成员患有常染色体显性遗传的中央核性肌病（CNM）。明显起病于四十岁出头，疾病进展缓慢。肢体无力为主。5例有斜视，3例有小腿肥大。血清肌酸激酶始终在正常范围内。1例在肌电图检查中发现肌强直放电。2例脑干听觉诱发电位研究显示峰间潜伏期I-III异常延长，提示亚临床神经系统受累。肌肉活检显示中央核性肌病的典型特征，中央核占50%至80%。文献中其他常染色体显性CNM家族以及一些散发性成人病例也有类似的临床特征。
