Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Caporali, Leonardo

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy. [electronic resource] - PLoS genetics 02 2018 - e1007210 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1553-7404

10.1371/journal.pgen.1007210 doi


Adult
Amino Acid Sequence
DNA, Mitochondrial--genetics
Electron Transport Complex I--chemistry
Epistasis, Genetic
Family
Female
Genes, Mitochondrial
Humans
Male
Models, Molecular
Multifactorial Inheritance
Mutation, Missense
NADH Dehydrogenase--chemistry
Optic Atrophy, Hereditary, Leber--genetics
Pedigree
Penetrance
Young Adult