Mercelis R, Martin J J, Martin L, Ceuterick C
Acta Neurol Belg. 1980;80(6):348-60.
A 21 year-old boy suffered from a congenital myopathy with predominantly proximal distribution and mild involvement of facial and oculomotor muscles. A third muscle biopsy at age 20 and a reappraisal of two previous biopsies led to the diagnosis of centronuclear myopathy. A review of about one hundred cases in the literature shows that age of onset, mode of inheritance and pathologic features may differ in large proportions. For genetic counselling investigations were performed on the patient's parents, brother and sister. All family members were clinically normal. Electromyography showed short potentials suggestive of myopathy in both parents but much more so in the patient's sister. Biopsies revealed equivocal changes, especially in mother and sister. No definitive conclusions about the mode of inheritance could be drawn in this family.
一名21岁男孩患有先天性肌病，主要累及近端肌肉，面部和动眼肌轻度受累。在其20岁时进行的第三次肌肉活检以及对前两次活检结果的重新评估，最终诊断为中央核性肌病。回顾文献中约100例病例发现，发病年龄、遗传方式和病理特征在很大程度上可能存在差异。为了进行遗传咨询，对患者的父母、兄弟和姐妹进行了调查。所有家庭成员临床均正常。肌电图显示，父母双方均有提示肌病的短时限电位，但在患者的妹妹中更为明显。活检显示变化不明确，尤其是在母亲和妹妹身上。在这个家族中无法得出关于遗传方式的确切结论。
