Rabbi-Bortolini E, Zatz M
Am J Med Genet. 1986 May;24(1):111-7. doi: 10.1002/ajmg.1320240113.
The preliminary results of a study to investigate possible genetic heterogeneity in Duchenne muscular dystrophy (DMD) are reported. Ninety-eight patients have been analyzed: 47 were isolated cases; 51 were familial cases. The patients were divided into three groups (normal intelligence, borderline, and mentally retarded) according to mental capacity and a comparison of clinical evolution (onset of clinical signs and loss of ambulation) as well as serum enzyme activities (creatine-kinase and pyruvate-kinase). In addition intrafamilial correlation analysis was done for the same parameters. The preliminary results did not show a significant difference between DMD patients with normal intelligence and those with mental retardation.
本文报告了一项关于杜氏肌营养不良症（DMD）可能存在的基因异质性研究的初步结果。共分析了98例患者：47例为散发病例；51例为家族病例。根据智力水平将患者分为三组（智力正常、临界智力、智力发育迟缓），并比较了临床进展情况（临床症状出现和行走能力丧失）以及血清酶活性（肌酸激酶和丙酮酸激酶）。此外，还对相同参数进行了家系内相关性分析。初步结果显示，智力正常的DMD患者与智力发育迟缓的患者之间没有显著差异。
