Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy
Marsac, C.; Degoul, F.; Bonne, G.; Romero, N.; Nelson, I.; Fardeau, M.; François, D.; Ponsot, G.; Harpey, J.P.; Eymard, B.
Revue Neurologique (Paris) 147(6-7): 462-466
1991
ISSN/ISBN: 0035-3787 PMID: 1962051 Document Number: 373367
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.