CIDeRplusGeneral Information:
| Id: | 6,872 (click here to show other Interactions for entry) |
| Diseases: |
MELAS
- [OMIM]
MERRF - [OMIM] |
| Homo sapiens | |
| article | |
| Reference: | Naini AB et al.(2005) Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF Arch. Neurol. 62: 473-476 [PMID: 15767514] |
Interaction Information:
| Comment | The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A, resulting in Ala236Th) in the ND5 gene. |
|
Formal Description Interaction-ID: 67117 |
|