Abstract
The authors sequenced the entire mitochondrial DNA coding region in a group of 19 patients with non-arteritic anterior ischemic optic neuropathy (NAION) and in 100 controls. Synonymous and nonsynonymous nucleotide changes were more common in NAION patients (p < 0.001). Twelve of these (11 novel) were potentially pathologic, nine of which altered moderately or highly conserved amino acids in the functional domain of the affected protein. Mitochondrial malfunction may be a risk factor for NAION.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1305-1308 |
| Number of pages | 4 |
| Journal | Neurology |
| Volume | 63 |
| Issue number | 7 |
| DOIs | |
| State | Published - Oct 12 2004 |
| Externally published | Yes |
ASJC Scopus subject areas
- Clinical Neurology