van der Ven P F, Jap P H, Wetzels R H, ter Laak H J, Ramaekers F C, Stadhouders A M, Sengers R C
Department of Cell Biology and Histology, University of Nijmegen, The Netherlands.
Neuromuscul Disord. 1991;1(3):211-20. doi: 10.1016/0960-8966(91)90027-p.
Postnatal centralization of muscle fibre nuclei, which were previously located subsarcolemmally, is described in a case of centronuclear myopathy (CNM) in a male patient with generalized muscle weakness since birth. A muscle biopsy was taken at the age of 11 months; no particular abnormalities were observed at this stage apart from an unusual variation in fibre size. A distinctly below average muscle fibre diameter, increased endomysial connective tissue, and features typical for CNM were found in a biopsy taken 9 yr later. Immunohistochemical studies using antibodies to desmin, vimentin, laminin and type IV collagen revealed altered staining patterns compared with normal fibres. The abnormalities in the patterns of cytoskeletal proteins point to a defective regulation of the composition and organization of the cytoskeletal network during development, paralleled by abnormalities in the extracellular matrix.
一名自出生以来就患有全身肌无力的男性患者被诊断为中心核肌病（CNM），其肌纤维核在出生后从先前位于肌膜下的位置向中央集中。该患者在11个月大时进行了肌肉活检；除了纤维大小存在异常变化外，此阶段未观察到任何特殊异常。9年后进行的活检发现，肌纤维直径明显低于平均水平，肌内膜结缔组织增加，且具有CNM的典型特征。使用抗结蛋白、波形蛋白、层粘连蛋白和IV型胶原抗体进行的免疫组织化学研究显示，与正常纤维相比，染色模式发生了改变。细胞骨架蛋白模式的异常表明，在发育过程中细胞骨架网络的组成和组织调控存在缺陷，同时细胞外基质也出现了异常。
