Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy.
作者： K. K. Abu-Amero , P. T. Ozand , T. M. Bosley
DOI: 10.1212/01.WNL.0000140696.34117.95
关键词:
摘要: The authors sequenced the entire mitochondrial DNA coding region in a group of 19 patients with non-arteritic anterior ischemic optic neuropathy (NAION) and 100 controls. Synonymous nonsynonymous nucleotide changes were more common NAION (p < 0.001). Twelve these (11 novel) potentially pathologic, nine which altered moderately or highly conserved amino acids functional domain affected protein. Mitochondrial malfunction may be risk factor for NAION.
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