Multiple muscle cell alterations in a case of encephalomyopathy

Skeletal muscle from an encephalomyopathy was examined by morphological and biochemical modalities. Mitochondria displayed variability in size, numbers per myocyte, and morphology. Certain organelles had stacks of dense cristae, others contained variable numbers of crystalloids or several lipid droplets. In isolated skeletal muscle mitochondria, oxidative phosphorylation was reduced, but activities of the electron transport chain components were unaffected. This is the second case of adult onset encephalomyopathy with a phenotype overlapping MERRF and Kearns-Sayre syndrome associated with a heteroplasmic mtDNA 3255G > A mutation in the tRNA(UUR(LEU)). This study emphasizes the desirability of a multidisciplinary approach in the diagnosis of complex myopathies.