Investigation on genetic heterogeneity in Duchenne muscular dystrophy.
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.
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Rabbi-Bortolini
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Zatz
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D007361:Intelligence Tests; D008124:Locomotion; D008297:Male; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D011770:Pyruvate Kinase / Q000097:blood
D011770:Pyruvate Kinase; D003402:Creatine Kinase