[Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber's hereditary optic neuropathy].

Abstract excerpt

Patients with Leber Hereditary Optic Neuropathy (LHON) in most cases have one of the three most common mutations: m.11778G>A in the ND4 gene, m.3460G>A in the ND1 gene, or m.14484T>C in the ND6 gene. According to the international Mitomap database, in addition to these three most common mutations, there are 16 other primary mutations that are even more rare. There are nucleotide substitutions that are classified...

Topics

• Humans
• DNA, Mitochondrial
• Optic Atrophy, Hereditary, Leber
• Nucleotides
• Mutation