| Autor: |
Mancuso, M., Salviati, L., Sacconi, S., Otaegui, D., Camaño, P., Marina, A., Bacman, S., Moraes, C.T., Carlo, J.R., Garcia, M., Garcia-Alvarez, M., Monzon, L., Naini, A.B., Hirano, M., Bonilla, E., Taratuto, A.L., DiMauro, S., Vu, T.H. |
| Zdroj: |
Neurology (Ovid); October 2002, Vol. 59 Issue: 8 p1197-1202, 6p |
| Abstrakt: |
The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is an autosomal recessive disorder of early childhood characterized by decreased mtDNA copy number in affected tissues. Recently, MDS has been linked to mutations in two genes involved in deoxyribonucleotide (dNTP) metabolism thymidine kinase 2 (TK2) and deoxy-guanosine kinase (dGK). Mutations in TK2have been associated with the myopathic form of MDS, and mutations in dGKwith the hepatoencephalopathic form. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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