Multiple muscle cell alterations in a case of encephalomyopathy

Hisashi Fujioka, Bernard Tandler, Mariana Rosca, Shawn E. McCandless, Bashar Katirji, Mark L. Cohen, Suthee Rapisuwon, Charles L. Hoppel

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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.

Original languageEnglish
Pages (from-to)13-25
Number of pages13
JournalUltrastructural Pathology
Issue number1
StatePublished - Feb 2014


  • Encephalomyopathy
  • Mitochondrial DNA
  • Mitochondrial function
  • Mitochondrial structure
  • Myopathy


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