Central core disease--a congenital myopathy.
A case is reported of a 28-year-old woman with central core disease who prior to muscle biopsy was diagnosed to have muscular dystrophy. Histologic evaluation confirmed a diagnosis of central core disease, a nonprogressive or slowly progressive disorder of voluntary muscle belonging to a group of muscle diseases called benign congenital myopathies. The clinical and pathologic features fo this benign disorder are reviewed. Two sons were examined and found to be normal.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis