Central core disease. Study of a family with five affected generations.
A family is described in which at least 37 members in five generations living in Australia have suffered from a rare congenital myopathy--central core disease (CCD). Histochemical and ultrastructural features typical of CCD were present on muscle biopsy. Although there are variations in clinical expression, a relatively benign and nonprogressive course is usual. Inheritance of CCD in this family conforms to an autosomal dominant pattern with a high degree of penetrance.
D000328:Adult; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree