Mitochondrial DNA depletion syndrome 3
OMIM:251880Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | DGUOK |
|---|---|
| Reference transcript | NM_080916.1 |
| DNA Change | c.763_766dupGATT |
| A.A. Change | p.Phe256X |
| Exon/Intron | exon 6 |
| Mutation Type | duplication |
| Reference | Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S.Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. Arch Neurol. 2003 Oct;60(10):1445-7. |