1986年Spiro报告1例创名为“肌管肌病”的先天性肌病。次年Sher报告2例姐妹患者,其母临床无症状而肌活检也发现29％肌纤维有中央性肌核,此后改称为“中央核性肌病”。它是由肌纤维中发现有中央性核,与肌胚胎发育的肌管相似而得名。至今国外已有70余例报告,国内尚未见完整的报道。本文通过肌肉酶和免疫组化 In 1986, Spiro reported 1 case of congenital myopathy named “myomyopathy.” The following year, Sher reported 2 sisters and their mother had asymptomatic clinical symptoms. Muscular biopsies also found that 29% of the muscle fibers had a central myenteric nucleus, which was later renamed as “central nuclei myopathy.” It is derived from a central nucleus found in muscle fibers, similar to the myotubes in which muscle embryos develop. So far more than 70 cases have been reported abroad, but no complete report has been found in China. This article by muscle enzymes and immunohistochemistry