Elder G B, Dean D, McComas A J, Paes B, DeSa D
J Neurol Sci. 1983 Jul;60(1):79-88. doi: 10.1016/0022-510x(83)90128-4.
A male case of centronuclear myopathy is reported, with severe weakness at birth and death at 7 weeks. In all the muscles studied the fibres, despite their immature appearances, showed normal histochemical differentiation into type I and type II moieties. In contrast to the extrafusal fibres, the intrafusal fibres seemed to be normal in their development. Although the small centrally-nucleated muscle fibres were equipped with motor end-plates, the EMG revealed profuse fibrillation activity. The conflicting findings are postulated to arise from the presence of inexcitable neuromuscular junctions which nevertheless permitted a neurotrophic influence to be exerted on the muscle fibres.
报告了一例中央核性肌病男性病例，出生时即有严重肌无力，7周时死亡。在所有研究的肌肉中，尽管纤维外观不成熟，但在组织化学上正常分化为I型和II型部分。与梭外纤维相反，梭内纤维在发育上似乎正常。虽然小的中央有核肌纤维配备有运动终板，但肌电图显示有大量纤颤活动。推测这些相互矛盾的发现是由于存在不可兴奋的神经肌肉接头，尽管如此，它仍允许对肌纤维施加神经营养影响。
