Mitochondrial diseases: genotype versus phenotype - PubMed (original) (raw)

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Mitochondrial diseases: genotype versus phenotype

D C Wallace. Trends Genet. 1993 Apr.

Abstract

Recently, a variety of degenerative diseases have been attributed to mutations in mitochondrial DNA. Even though these mutations are inherited and present throughout the body, they frequently cause late-onset, tissue-specific disease. This may be explained by a combination of the tissue-specific accumulation of somatic mtDNA mutations with age and the variation between tissues in the expression of nuclear genes that encode mitochondrial functions.

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