Nemaline myopathy and cardiomyopathy

A case report is presented in which a 4-year-old male is diagnosed with hyp ertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psych omotor retardation. Electron microscopic study of skeletal muscle biopsy re vealed pathologic changes typical of congenital nemaline myopathy, and bioc hemical analysis revealed a disorder of mitochondrial fatty acid oxidation. Therefore a previously undescribed combination of a structural and metabol ic myopathy is reported. (C) 1999 by Elsevier Science Inc. All rights reser ved.