Zellweger H, Ionasescu V, Simpson J
Helv Paediatr Acta. 1980 Sep;35(4):343-8.
The first two cases of sporadic Duchenne muscular dystrophy (DMD) in females without a family history of DMD are reported. Both females had normal chromosomes and were identified as DMD by in vitro studies of protein synthesis by muscle ribosomes and by carrier studies of the mother of the proband. These observations are important for the genetic counselor. The possible diagnosis X-linked DMD has to be considered for every female with sporadic pelvifemoral MD, and carrier studies have to be requested for the proband's mother and possibly other maternal female relatives.
本文报告了两例无杜氏肌营养不良症（DMD）家族史的散发性女性DMD病例。两名女性染色体均正常，通过对肌肉核糖体蛋白质合成的体外研究以及对先证者母亲的携带者研究确定为DMD。这些观察结果对遗传咨询师很重要。对于每一位患有散发性骨盆股部肌营养不良症的女性，都必须考虑可能的X连锁DMD诊断，并且必须对先证者的母亲以及可能的其他母系女性亲属进行携带者研究。
