Pongratz D, Weindl A, Reichl W, Koppenwallner C, Heuser M, Hübner G
Klin Wochenschr. 1976 May 1;54(9):423-30. doi: 10.1007/BF01470928.
This report deals with a family in which the mother and her two daughters suffer from a congenital, slowly progressive neuromuscular disease. Histological, histochemical and ultrastructural observations of the mother's muscle biopsy reveal the characteristics of the centronuclear myopathy. In this case central nuclei and pericentronuclear abnormalities of muscle fibers are found in almost all fibers. Biopsies obtained of the two daughters show alterations especially of type I-fibers, which often are smaller than normal. The presence of these two forms of centronuclear myopathy in one family indicates that these may be only different morphological types of states of one illness. Additionally, other structural findings (rod bodies, core like regions) emphasize the similarities with other congenital slowly progressive myopathies (nemaline myopathy, central core disease).
本报告涉及一个家庭，该家庭中的母亲和她的两个女儿患有先天性、缓慢进展的神经肌肉疾病。对母亲的肌肉活检进行组织学、组织化学和超微结构观察，揭示了中央核肌病的特征。在这种情况下，几乎所有肌纤维中都发现了中央核和核周肌纤维异常。两个女儿的活检显示特别是I型纤维有改变，这些纤维通常比正常的小。一个家庭中存在这两种形式的中央核肌病表明，它们可能只是一种疾病状态的不同形态类型。此外，其他结构发现（杆状体、核心样区域）强调了与其他先天性缓慢进展性肌病（线状体肌病、中央核心病）的相似性。
