Article
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.
Ophthalmic genetics - 1 Mar 2008
Shankar Suma P, Fingert John H, Carelli Valerio, Valentino Maria L, King Terri M, Daiger Stephen P, Salomao Solange R, Berezovsky Adriana, Belfort Rubens, Braun Terri A, Sheffield Val C, Sadun Alfredo A, Stone Edwin M
Abstract excerpt
Leber Hereditary Optic Neuropathy (LHON) is a maternally inherited blinding disease caused by missense mutations in the mitochondrial DNA (mtDNA). However, incomplete penetrance and a predominance of male patients presenting with vision loss suggest that modifying factors play an important role in the development of the disease. Evidence from several studies suggests that both nuclear modifier genes and...
Topics
- Brazil
- Chromosome Mapping
- Chromosomes, Human, X
- DNA, Mitochondrial
- Female
- Genetic Linkage
- Genetic Predisposition to Disease
- Humans
- Male
- Mutation