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Duchenne型肌营养不良症(DMD)属性连隐性遗传,但致病基因在母亲X染色体上的位点还不清楚,为了确定其位点,研究DMD与血友病或其它性连遗传疾病的连锁关系是必要的,作者对一个同时发生DMD和血友病A的家系调查了这种联系。病例报告:患者V_7(先证者)生于1959年,自婴儿期起就有出血倾向,4岁走路和从地板站起困难,6岁确诊为DMD和血友病A。11岁时肌电图显
The Duchenne muscular dystrophy (DMD) attribute is associated with recessive inheritance but the location of the causative gene on the maternal X chromosome remains unclear. In order to determine its location, studies of DMD with hemophilia or other sexually linked genetic disorders The linkage is necessary, and the authors investigated this relationship for a pedigree with both DMD and hemophilia A. Case Presentation: Patient V_7 (proband) was born in 1959 with a tendency to hemorrhage from infancy, 4 years of walking and difficulty standing up from the floor, and was diagnosed as DMD and hemophilia A at 6 years of age. Eleven years old EMG