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.
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DOI: 10.1097/jxx.0000000000000693
Abstract: 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… read more here.
Keywords: lactic acidosis; stroke like; acidosis stroke; encephalopathy lactic ... See more keywords