title: X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers.
abstract: We report a unique case of a 46-year-old female who had signs of Duchenne-like muscular dystrophy on clinical, electromyographic, and laboratory investigation. A brother, sister, maternal uncle, and her own son also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both the X chromosomes to be morphologically normal. We discuss different hypothetical mechanisms to account for the family pedigree.
mesh_terms: D003241:Consanguinity; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012306:Risk; D014960:X Chromosome
chemical_list: D003402:Creatine Kinase