Cochrane P, Hughes R R, Buxton P H, Yorke R A
J Neurol Neurosurg Psychiatry. 1973 Apr;36(2):217-24. doi: 10.1136/jnnp.36.2.217.
The clinical and laboratory findings are presented of three patients (two affected sisters and their male cousin) with myophosphorylase deficiency in two interrelated families. Nine unaffected relatives were also investigated. Although the three patients demonstrated the characteristic features of the disease, their unaffected relatives showed no clear evidence of a heterozygous state. The genetic findings support the hypothesis that the disease is inherited as a rare autosomal recessive. A possible sex-limited mode of inheritance is discussed.
本文呈现了两个相关家族中三名患有肌磷酸化酶缺乏症患者（两名患病姐妹及其男性表弟）的临床和实验室检查结果。还对九名未患病亲属进行了调查。尽管这三名患者表现出该疾病的典型特征，但他们未患病的亲属未显示出杂合状态的明确证据。遗传学研究结果支持该病作为一种罕见的常染色体隐性遗传的假说。文中还讨论了一种可能的性别限制遗传模式。
