Osari S, Kobayashi O, Yamashita Y, Matsuishi T, Goto M, Tanabe Y, Migita T, Nonaka I
Department of Laboratory Medicine, National Center of Neurology and Psychiatry, Tokyo, Japan.
Acta Neuropathol. 1996;91(4):332-6. doi: 10.1007/s004010050433.
In muscle biopsy specimens from three patients with merosin-negative congenital muscular dystrophy (CMD), there was marked variation in fiber size with evidence of necrotic and regenerating processes and with marked interstitial fibrosis. No muscle fibers or intramuscular nerves stained with merosin antibody. On electron microscopy, the basement membrane of all the muscle fibers was very poorly discernible and there were occasional disruptions, while the basement membrane of the Schwann cells was well preserved. On the other hand, the sarcolemmal basement membrane in merosin-positive CMD was well preserved even in patient with severe interstitial fibrosis. It remains to be determined how the defective basement membrane in merosin-negative CMD induces defective sarcolemma and eventual fiber necrosis.
在3例缺乏层黏连蛋白的先天性肌营养不良（CMD）患者的肌肉活检标本中，肌纤维大小存在显著差异，有坏死和再生过程的证据，且伴有明显的间质纤维化。没有肌纤维或肌内神经被层黏连蛋白抗体染色。电子显微镜检查显示，所有肌纤维的基底膜很难辨认，偶尔有中断，而施万细胞的基底膜保存完好。另一方面，即使在有严重间质纤维化的患者中，层黏连蛋白阳性的CMD中的肌膜基底膜也保存完好。尚待确定缺乏层黏连蛋白的CMD中缺陷性基底膜如何诱导肌膜缺陷及最终的纤维坏死。
