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Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

✍ Scribed by Coralie Haudry; Pascale de Lonlay; Valerie Malan; Christine Bole-Feysot; Zahra Assouline; Solenn Pruvost; Anais Brassier; Jean-Paul Bonnefont; Arnold Munnich; Agnès Rötig; Anne-Sophie Lebre

Book ID: 118507208
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 548 KB
Volume: 107
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2012.10.008

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## Abstract Mitochondrial depletion syndrome (MDS) refers to a heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues. Mutations in __DGUOK__ encoding deoxyguanosine kinase (MIM 601465) cause the hepatocerebral form of MDS (MIM 25188

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