遗传性进行性肌营养不良基因的位点迄今尚未确定,但因此病系伴性遗传,患者几乎全为男性,故此病位点必定在X染色体上。此病女性患者为数极少,其发病机理或因染色体异常—45,XO染色体组型,或虽为正常的XX核型,但因染色体发生重排,导致X染色体非随机性失活。本文报导一例女性患者,预产期过10天后出生,体重3,420克,婴儿期发育正常。15个月开始走路,但是不稳。5岁时出现腓肠肌肥大,腿和背部比手臂更严重,所以不 The site of hereditary muscular dystrophy gene has not been established so far, but the disease is inherited by the sexes and almost all of the patients are male. Therefore, the site of the disease must be on the X chromosome. The disease is extremely rare in women, the pathogenesis of which is due to chromosomal abnormalities -45, XO genomics, or even normal XX karyotypes, but due to chromosomal rearrangements, resulting in non-random X-chromosome inactivation. This article reports a female patient, born 10 days after the expected date of delivery, weighing 3,420 grams, normal development during infancy. 15 months began to walk, but not stable. Gastrocnemius hypertrophy occurs at 5 years of age with more severe legs and back than the arms, so no