[2 families with benign myopathy predominantly on the limb girdle with dominant autosomal heredity].
Very few authenticated cases of benign muscular dystrophy affecting mainly the girdles and of dominant autosomal inheritance have been documented. Two families were seen with this type of transmission, and certain common characteristics noted: proximal weakness and amyotrophy, frequency of muscle contractures, mainly distal, true calf hypertrophy, slow progression and benign nature and finally a fairly uniform semiology in the same family, an atypical finding in dominant autosomal hereditary disease.
Serratrice
G
G
CHU Timone, Marseille.
Pellissier
J F
JF
D000328:Adult; D005121:Extremities; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000635:transmission
Deux familles de myopathies bénignes prédominant sur les ceintures d'hérédité autosomique dominante.