Mitochondrial mutations: genotype to phenotype.

Abstract excerpt

Diseases associated with defects of the mitochondrial respiratory chain fall into four major categories: (1) those due to mutations in respiratory chain subunits; (2) those due to mutations that affect respiratory chain assembly; (3) those due to mutations that affect respiratory chain function indirectly, either via alterations in the translation of mtDNA-encoded polypeptides or via alterations in mtDNA...

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