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A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

BACKGROUND: Pathogenic mutations of the human mitochondrial genome are associated with well-characterized, progressive neurological syndromes, with mutations in the transfer RNA genes being particularly prominent. OBJECTIVE: To describe a novel mitochondrial transfer RNA(Pro) gene mutation in a woman with a myoclonic epilepsy with ragged-red fibers-like disease. Design, Setting, and Patient Case report of a 49-year-old woman presenting with a myoclonic epilepsy with ragged-red fibers-like disease comprising myoclonic jerks, cerebellar ataxia, and proximal muscle weakness. RESULTS: Histochemical analysis of a muscle biopsy revealed numerous cytochrome-c oxidase-deficient, ragged-red fibers, while biochemical studies indicated decreased activity of respiratory chain complex I. Molecular investigation of mitochondrial DNA revealed a new heteroplasmic mutation in the TpsiC stem of the mitochondrial transfer RNA(Pro) gene that segregated with cytochrome-c oxidase deficiency in single muscle fibers. CONCLUSIONS: Our case serves to illustrate the ever-evolving phenotypic spectrum of mitochondrial DNA disease and the importance of performing comprehensive mitochondrial genetic studies in the absence of common mitochondrial DNA mutations.

Pubmed ID: 19273760


  • Blakely EL
  • Trip SA
  • Swalwell H
  • He L
  • Wren DR
  • Rich P
  • Turnbull DM
  • Omer SE
  • Taylor RW


Archives of neurology

Publication Data

March 10, 2009

Associated Grants

  • Agency: Wellcome Trust, Id: 074454
  • Agency: Wellcome Trust, Id:

Mesh Terms

  • Cytochrome-c Oxidase Deficiency
  • DNA Mutational Analysis
  • DNA, Mitochondrial
  • Electron Transport Complex I
  • Female
  • Humans
  • MERRF Syndrome
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mutation
  • RNA, Transfer, Pro
  • Succinate Dehydrogenase