Investigation on genetic heterogeneity in Duchenne muscular dystrophy

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Abstract
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 (creatinekinase 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.