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Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

✍ Scribed by François Labarthe; Dries Dobbelaere; Louise Devisme; Anne De Muret; Claude Jardel; Jan-Willem Taanman; Frédéric Gottrand; Anne Lombès

Book ID
116650742
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
491 KB
Volume
43
Category
Article
ISSN
0168-8278

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Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia. In this series, we have identified 15 different mutations in the DGUOK gene from 9 kindreds. Among them, 12 have not previ