[Mitochondrial DNA mutations and three major forms of mitochondrial myopathies: CPEO, MELAS and MERRF].

Abstract excerpt

Mitochondrial DNA (mtDNA) mutations were discovered during a few years around 1990 and thought to be assigned to the three major clinical forms of mitochondrial myopathies. Then, several mtDNA mutations were detected in each disease and the common mutations were found in more than one disease, su...

Topics

• DNA, Mitochondrial
• Gene Dosage
• Genotype
• Heterozygote
• Humans
• MELAS Syndrome
• MERRF Syndrome
• Mitochondria, Muscle
• Mutation
• Ophthalmoplegia, Chronic Progressive External
• Phenotype