Article
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
Neurology - 22 Oct 2002
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
Abstract excerpt
BACKGROUND: 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 TK2 have been associated with the myopathic form...
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