Article
Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand.
Human genetics - 1 Jul 2010
Phasukkijwatana Nopasak, Kunhapan Bussaraporn, Stankovich Jim, Chuenkongkaew Wanicha L, Thomson Russell, Thornton Timothy, Bahlo Melanie, Mushiroda Taisei, Nakamura Yusuke, Mahasirimongkol Surakameth, Tun Aung Win, Srisawat Chatchawan, Limwongse Chanin, Peerapittayamongkol Chayanon, Sura Thanyachai, Suthammarak Wichit, Lertrit Patcharee
Abstract excerpt
Leber hereditary optic neuropathy (LHON) is the most common mitochondrially inherited disease causing blindness, preferentially in young adult males. Most of the patients carry the G11778A mitochondrial DNA (mtDNA) mutation. However, the marked incomplete penetrance and the gender bias indicate some additional genetic and/or environmental factors to disease expression. Herein, we first conducted a genome-wide...
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