Fujioka H.,Center for Mitochondrial Disease |
Tandler B.,Center for Mitochondrial Disease |
Rosca M.,Center for Mitochondrial Disease |
Rosca M.,Case Western Reserve University |
And 7 more authors.
Ultrastructural Pathology | Year: 2014
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 tRNAUUR(LEU). This study emphasizes the desirability of a multidisciplinary approach in the diagnosis of complex myopathies. © 2014 Informa Healthcare USA, Inc. All rights reserved: reproduction in whole or part not permitted.