Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

Deoxyguanosine kinase (DGUOK) gene mutations have been identified in the hepatocerebral form of mitochondrial DNA depletion syndromes. We report here clinical and laboratory features of 3 infants with novel DGUOK gene mutations, c.130G>A (Glu44Lys), c.493G>A (Glu165Lys), and c.707+3_6delTAAG.

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Veröffentlicht in:Journal of child neurology 2015-01, Vol.30 (1), p.124-128
Hauptverfasser: Sezer, Taner, Ozçay, Figen, Balci, Oya, Alehan, Füsun
Format: Artikel
Sprache:eng
Schlagworte:
Female
Hepatic Encephalopathy - genetics
Humans
Infant
Male
Mitochondrial Diseases - complications
Mitochondrial Diseases - genetics
Mutation - genetics
Phosphotransferases (Alcohol Group Acceptor) - genetics
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creator Sezer, Taner
Ozçay, Figen
Balci, Oya
Alehan, Füsun
description Deoxyguanosine kinase (DGUOK) gene mutations have been identified in the hepatocerebral form of mitochondrial DNA depletion syndromes. We report here clinical and laboratory features of 3 infants with novel DGUOK gene mutations, c.130G>A (Glu44Lys), c.493G>A (Glu165Lys), and c.707+3_6delTAAG.
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subjects Female
Hepatic Encephalopathy - genetics
Humans
Infant
Male
Mitochondrial Diseases - complications
Mitochondrial Diseases - genetics
Mutation - genetics
Phosphotransferases (Alcohol Group Acceptor) - genetics
title Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome
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