Farkas-Bargeton E, Barbet J P, Dancea S, Wehrle R, Checouri A, Dulac O
Laboratoire de Neuropathologie de l'Hôpital Saint-Vincent-de-Paul, Paris, France.
J Neurol Sci. 1988 Feb;83(2-3):145-59. doi: 10.1016/0022-510x(88)90064-0.
Skeletal muscle maturation is impaired in children with congenital myotonic dystrophy. This immaturity is characterized at the light microscopy level by an abnormal presence of myotubes, small fascicles of muscle fibers, thin myofibers, and delayed muscle fiber type differentiation with a peripheral halo lacking mitochondrial oxidative enzyme activity. At an ultrastructural level, the characteristics are a paucity of myofibrils with a peripheral rim devoid of mitochondria and myofibrils in the fibers. In time the muscle is able to gain a certain degree of maturity as shown in one of our cases who had two successive muscle biopsies. The muscle, however, never becomes normal but retains discrepancies in fiber size and fiber type distribution and shows some fiber necrosis. Maturation of the motoneurons is normal, which may explain necrosis of immature muscle fibers. In an experimental study carried out to look for evidence of a circulatory factor in mothers of children with congenital myotonic dystrophy, it was found that sera from these mothers administered intra-peritoneally to newborn rats does in fact impair muscle maturation, whereas rats injected similarly with sera from control women showed normal muscle maturation.
先天性肌强直性营养不良患儿的骨骼肌成熟受到损害。在光学显微镜水平上，这种不成熟的特征表现为肌管异常存在、肌纤维小束、肌纤维细以及肌纤维类型分化延迟，周围有缺乏线粒体氧化酶活性的晕圈。在超微结构水平上，其特征是肌原纤维数量少，纤维外周边缘缺乏线粒体和肌原纤维。随着时间推移，肌肉能够获得一定程度的成熟，正如我们的一个病例所示，该病例进行了两次连续的肌肉活检。然而，肌肉从未恢复正常，而是在纤维大小和纤维类型分布上仍存在差异，并显示出一些纤维坏死。运动神经元的成熟是正常的，这可能解释了未成熟肌纤维的坏死。在一项旨在寻找先天性肌强直性营养不良患儿母亲体内循环因子证据的实验研究中，发现将这些母亲的血清腹腔注射给新生大鼠，实际上会损害肌肉成熟，而同样注射对照女性血清的大鼠肌肉成熟正常。
