Article
New mutations in TK2 gene associated with mitochondrial DNA depletion.
Pediatric neurology - 1 Mar 2006
Galbiati Sara, Bordoni Andreina, Papadimitriou Dimitra, Toscano Antonio, Rodolico Carmelo, Katsarou Efi, Sciacco Monica, Garufi Anastasia, Prelle Alessandro, Aguennouz M 'hammed, Bonsignore Maria, Crimi Marco, Martinuzzi Andrea, Bresolin Nereo, Papadimitriou Alex, Comi Giacomo P
Abstract excerpt
Mitochondrial deoxyribonucleic acid depletion syndromes are autosomal recessive disorders characterized by a reduction of the amount of mitochondrial deoxyribonucleic acid, which impairs the synthesis of respiratory chain complexes. Mutations in the deoxyguanosine kinase and polymerase gamma genes have been identified in hepatocerebral forms, whereas thymidine kinase 2 gene mutations have been found in patients...
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