title: [Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy].
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.
authors.affiliation: INSERM U 75, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Marsac
authors.forename: F
authors.initials: F
authors.lastname: Degoul
authors.forename: G
authors.initials: G
authors.lastname: Bonne
authors.forename: N
authors.initials: N
authors.lastname: Romero
authors.forename: I
authors.initials: I
authors.lastname: Nelson
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: D
authors.initials: D
authors.lastname: François
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
authors.forename: J P
authors.initials: JP
authors.lastname: Harpey
authors.forename: B
authors.initials: B
authors.lastname: Eymard
mesh_terms: D015153:Blotting, Western; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008931:Mitochondria, Muscle / Q000502:physiology*; D009135:Muscular Diseases / Q000235:genetics / Q000503:physiopathology*; D011048:Polarography; D013053:Spectrophotometry
chemical_list: D004272:DNA, Mitochondrial
vernacular_title: Etude de la fonction mitochondriale et de l'ADN mitochondrial sur une série de 64 patients suspects de myopathies mitochondriales.