Emery-Dreifuss muscular dystrophy. An autopsy case.
We reported the autopsy findings in a 50-year-old man with typical clinical features of Emery-Dreifuss muscular dystrophy. Special attention was directed to the spinal cord and ventral spinal roots to determine whether cause of the muscle wasting was denervation or myopathy. Neuropathological studies disclosed no abnormality of the spinal cord, and the ventral spinal roots were intact. The skeletal muscles showed dystrophic changes of varying degrees, and marked cardiomyopathy was evident. We consider that muscle wasting in this man was due to muscular dystrophy.
D000870:Anterior Horn Cells / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000473:pathology*; D009206:Myocardium / Q000473:pathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013126:Spinal Nerve Roots / Q000473:pathology