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肌强直性营养不良(DM)为常染色体显性遗传性疾病,有许多器官受累,包括骨骼肌、心脏、眼、骨骼、皮肤、中枢和周围神经系统、内分泌和消化系统。DM基因的表现型常有变异,在同一个家族中,受累的个体常常显示不同的临床表现、发病年龄和进展速度,提示DM的表现型受遗传或非遗传因素的影响。根据目前资料认为,在DM基因的变异型中,遗传因素起着主要作用。作者报道两对DM双胞胎,并且证实,在周围血的多形核白细胞内有相同的DNA。
Myotonic dystrophy (DM) is an autosomal dominant genetic disorder that has many organs involved, including skeletal muscle, heart, eye, bone, skin, central and peripheral nervous systems, endocrine and digestive systems. DM gene phenotype often variation, in the same family, affected individuals often show different clinical manifestations, age of onset and the rate of progress, suggesting that DM phenotype by genetic or non-genetic factors. According to the current information that in the DM gene variants, genetic factors play a major role. The authors reported on two pairs of DM twins and confirmed that there was the same DNA in polymorphonuclear leukocytes in the peripheral blood.