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Publication:

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis (1997)

Author(s): P. F. Chinnery;M. A. Johnson;R. W. Taylor;R. N. Lightowlers;D. M. Turnbull

  • : A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

Abstract: We describe a patient who presented with acute rhabdomyolysis and had 68% cytochrome c oxidase (COX)-deficient fibers in skeletal muscle. Further investigations confirmed a respiratory chain defect that was associated with a novel heteroplasmic point mutation in the phenylalanine tRNA gene of the mitochondrial genome (mtDNA). Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in COX-negative fibers. This is the first case of a mitochondrial tRNA gene point mutation presenting with acute rhabdomyolysis and recurrent myoglobinuria.

  • Short Title: A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis
  • Journal: Annals of Neurology
  • Volume: 41
  • Issue: 3
  • Pages: 408-10
  • Publication type: Article
  • Bibliographic status: Published

    Keywords: Acute Disease Adult Base Sequence Biopsy Case Report Cytochrome-c Oxidase/df [Deficiency] Human Male Muscle, Skeletal/en [Enzymology] Muscle, Skeletal/pa [Pathology] Myoglobinuria/co [Complications] *Phenylalanine/ge [Genetics] *Point Mutation Rhabdomyolysis/co [Complications] *Rhabdomyolysis/ge [Genetics] *RNA, Transfer, Amino Acid-Specific/ge [Genetics] Support, Non-U.S. Gov't

    Staff

    Professor Patrick Chinnery
    Wellcome Senior Fellow in Clinical Science and Professor of Neurogenetics