title: Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature.
abstract: Clinical and laboratory data of five cases of Emery-Dreifuss muscular dystrophy in three generations of a family are reported. Severity of the myopathic picture varied in the five patients considerably from almost noninvolvement to severe manifestations. In contrast, cardiomyopathy was severe not only in three adults but also in a 13-year-old boy. A review is given of 73 cases from the 6 major families reported in the literature. Most striking is the high incidence of sudden death. A wide variability in the severity of the myopathic picture was also evident.
mesh_terms: D000328:Adult; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome