Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis

Neurology. 1996 Oct;47(4):1012-4. doi: 10.1212/wnl.47.4.1012.

Abstract

In a nonalcoholic woman with multiple symmetric lipomatosis (MSL), muscle histochemistry showed ragged-red fibers and cytochrome c oxidase negative fibers. Southern blot analysis revealed a single deletion of mitochondrial DNA (mtDNA). We suggest that MSL is an uncommon manifestation of the wide clinical spectrum of mitochondrial disorders, in particular of those associated with single mtDNA deletions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • DNA, Mitochondrial / metabolism*
  • Female
  • Gene Deletion
  • Humans
  • Lipomatosis / complications
  • Lipomatosis / genetics*
  • Middle Aged
  • Mitochondrial Myopathies / complications
  • Mitochondrial Myopathies / genetics*

Substances

  • DNA, Mitochondrial