Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Biochim Biophys Acta
; 1792(12): 1109-12, 2009 Dec.
Article
in En
| MEDLINE
| ID: mdl-19748572
ABSTRACT
These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be taken as evidence that any particular mutation is pathogenic. We have included genes known to cause mtDNA depletion, excluding POLG1, because of the existing database (http//tools.niehs.nih.gov/polg/). We have also excluded mutations in C10orf2 associated with dominant adult onset disorders.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA, Mitochondrial
/
Mitochondrial Diseases
/
Genes, Mitochondrial
/
Mutation
Limits:
Humans
Language:
En
Journal:
Biochim Biophys Acta
Year:
2009
Type:
Article
Affiliation country:
United kingdom