中央核性肌病

Bill P L, Cole G, Proctor N S

J Neurol Neurosurg Psychiatry. 1979 Jun;42(6):548-56. doi: 10.1136/jnnp.42.6.548.

Centronuclear myopathy occurring sporadically in two African female children is reported, with details of clinical history and histological, histochemical, and ultrastructural findings, and a review of 58 previously reported cases. In spite of distinctive histological features, the clinical presentation of this condition is variable, there are different modes of inheritance, and the pathogenesis remains unclear.

报告了两名非洲女童散发性中央核肌病，包括临床病史细节以及组织学、组织化学和超微结构检查结果，并对之前报告的58例病例进行了综述。尽管有独特的组织学特征，但这种疾病的临床表现具有多样性，存在不同的遗传方式，发病机制仍不清楚。