Understanding the nomenclature of mitochondrial DNA mutations through examples of two specific disease entities: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and Leber hereditary optic neuropathy.

Abstract excerpt

ABSTRACT: Mitochondrial diseases are genetic disorders that can arise either from maternally inherited mitochondrial DNA (mtDNA) or from mutations in nuclear DNA. This article is the second in a series of papers reviewing mitochondrial genetics and several of the disorders associated with mitochondrial gene variants. With a prevalence of 1:∼4,300 persons, mitochondrial disorders are diagnostic entities with which...

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