Article
Mitochondrial encephalomyopathies: clinical and molecular analysis.
Journal of bioenergetics and biomembranes - 1 Jun 1994
Schon E A, Hirano M, DiMauro S
Abstract excerpt
The classification of mitochondrial encephalomyopathies relied upon clinical, biochemical, and histological features until the discovery of mitochondrial DNA defects in 1988. Since then, an outburst of molecular genetic information has aided our understanding of the pathogenesis and the classification of these heterogeneous disorders. Novel concepts of maternal inheritance, mitochondrial DNA (mtDNA) heteroplasmy,...
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