Article
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.
Muscle & nerve. Supplement - 1 Jan 1995
Moraes C T, Sciacco M, Ricci E, Tengan C H, Hao H, Bonilla E, Schon E A, DiMauro S
Abstract excerpt
Large-scale deletions of mitochondrial DNA (mtDNA) have been associated with a subgroup of mitochondrial encephalomyopathies, usually characterized by progressive external ophthalmoplegia (PEO) and mitochondrial proliferation in muscle fibers. We and others have shown that muscle from patients with mtDNA deletions have variable cytochrome c oxidase (COX) deficiency and reduction of mitochondrially-synthesized...
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