Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene

Rami Massie, Jing Wang, Li Chieh Chen, Victor W. Zhang, Michael P. Collins, Lee Jun C. Wong, Margherita Milone

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

We report a novel heteroplasmic mutation p.Y440C in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX) gene in a patient with late onset progressive painless weakness. Her muscle biopsy showed scattered COX-negative fibers and several small collections of inflammatory cells. The mutation was detected in the patient's muscle but not in her blood. The low mutant load in muscle could explain the patient's late onset of the myopathy and milder phenotype when compared to the previously published cases with MTCO1 mutations.

Original languageEnglish (US)
Pages (from-to)158-163
Number of pages6
JournalJournal of the neurological sciences
Volume319
Issue number1-2
DOIs
StatePublished - Aug 15 2012

Keywords

  • COX
  • Cytochrome c oxidase
  • MTCO1
  • Mitochondrial myopathy
  • Muscle inflammation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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