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Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

1 Dec 2018

Abstract excerpt

OBJECTIVES: Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by a variable and reduced penetrance. Individuals carrying a primary LHON-causing mitochondrial DNA (mtDNA) mutation may either remain asymptomatic lifelong, as unaffected carriers, or develop sudden central visual loss that rapidly aggravates over some weeks. Over the years several genetic/environmental...

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PMID: 30572950
DOI: 10.1186/s13104-018-4025-y

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