Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

Neurology. 2001 Mar 27;56(6):802-5. doi: 10.1212/wnl.56.6.802.

Abstract

The authors describe a family of Sephardic Jews with progressive external ophthalmoparesis, skeletal muscle weakness, and parkinsonism. Autosomal recessive inheritance was suggested by many consanguineous marriages, although a dominant disorder could not be excluded. No linkage to known progressive external ophthalmoparesis locus was found. The presence of cytochrome c oxidase-negative ragged-red fibers, biochemically reduced respiratory chain complexes, and multiple mitochondrial DNA deletions in muscle biopsies from four patients suggested a new mitochondrial disorder of intergenomic communication.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Jews
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / ethnology
  • Mitochondrial Myopathies / genetics*
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics*
  • Pedigree

Substances

  • DNA, Mitochondrial

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