[Clinical and genetical analysis of X-linked progressive muscular dystrophy].
The results of an analysis of a group of 250 patients with acute and mild forms of x-linked dystrophy and of 184 women from their families seem to suggest a similar genetic defect in both forms of the disease. The posibility of intrafamilial variability, similar type of muscular damage and indentical features of heterozygotes may support this hypothesis. This may suggest also a practical conclusion for genetic counselling, that it is difficult to predict reliably what wall be the form of the disease in the sons of a female carrier of dystrophy gene.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D014960:X Chromosome
Analiza kliniczna i genetyczna postepujacej dystrofii mieśniowej sprzeZonej Z chromosomem X.