Article
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
Molecular vision - 21 Dec 2007
Hudson Gavin, Carelli Valerio, Horvath Rita, Zeviani Massimo, Smeets Hubert J, Chinnery Patrick F
Abstract excerpt
PURPOSE: Leber hereditary optic neuropathy (LHON) is a common cause of genetically determined blindness in young adults. LHON preferentially affects males and is primarily due to a mutation affecting complex I genes of mitochondrial DNA (mtDNA). While LHON primarily affects men, a number of women are affected. Segregation analysis has implicated an interacting recessive X-chromosomal locus, with skewed...
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