[Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy]

Rev Neurol (Paris). 1991;147(6-7):462-6.
[Article in French]

Abstract

Biochemical results concerning 64 patients suspected of mitochondrial myopathies are presented. Four clinical groups were studied including 21 encephalomyopathies, 42 ocular myopathies, 8 isolated myopathies and 3 cardiomyopathies. In 26 cases, the coexistence of a normal mitochondrial DNA and a mutated mitochondrial DNA (heteroplasmy) was found (19 simple deletions, 4 multiple deletions and 3 punctual mutations) and all cases presented with ocular disorders (excepted 2 cases with MERRF). Furthermore, 1 complex I deficiency (1 ocular myopathy), 1 complex IV deficiency (1 adult encephalomyopathy type Leigh), 3 complexes I + IV deficiencies (2 cases with a cardiomyopathy and 1 familial MELAS) and 2 pyruvate (1 adult from of Leigh's encephalomyopathy) dehydrogenase deficiencies (clinically and genetically different) did not show evidence of mitochondrial DNA mutation.

Publication types

  • English Abstract

MeSH terms

  • Blotting, Western
  • DNA, Mitochondrial / genetics*
  • Humans
  • Mitochondria, Muscle / physiology*
  • Muscular Diseases / genetics
  • Muscular Diseases / physiopathology*
  • Polarography
  • Spectrophotometry

Substances

  • DNA, Mitochondrial