Article
Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS.
Ophthalmic genetics - 1 Mar 2005
Abu-Amero Khaled K, Bosley Thomas M, Bohlega Saeed, Hansen Erik
Abstract excerpt
PURPOSE: To assess the functional significance of the mitochondrial nt-9957 mutation in a man with non-arteritic ischemic optic neuropathy (NAION). This nt-9957 mutation has been previously reported in association with mitochondrial encephalopathy, lactic acidosis, and stroke-like events (MELAS). METHODS: The patient was examined clinically and with magnetic resonance imaging and spectroscopy. The entire coding...
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