[Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy].
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.
Marsac
C
C
INSERM U 75, Paris, France.
Degoul
F
F
Bonne
G
G
Romero
N
N
Nelson
I
I
Fardeau
M
M
François
D
D
Ponsot
G
G
Harpey
J P
JP
Eymard
B
B
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
D004272:DNA, Mitochondrial
Etude de la fonction mitochondriale et de l'ADN mitochondrial sur une série de 64 patients suspects de myopathies mitochondriales.