Abstract:A Kuwaiti brother and sister (with 4 sibs and 4 half sibs), products of a consanguineous marriage of second-degree cousins, showed a clinical, biochemical, electromyographic, and histopathological profile of pseudohypertrophic Duchenne muscular dystrophy with normal chromosome constitution. The findings support the concept of severe progressive limb-girdle muscular dystrophy with autosomal recessive inheritance. Preliminary studies of DNA samples by cDNA probes from the Duchenne/Becker locus have ruled out a p… Show more
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