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Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement

  • Published:2005-12 Issue:4 Volume:86 Page:462-465
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Slama A.,Giurgea I.,Debrey D.,Bridoux D.,de Lonlay P.,Levy P.,Chretien D.,Brivet M.,Legrand A.,Rustin P.,Munnich A.,Rötig A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference15 articles.

1. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases;Moraes;Am. J. Hum. Genet.,1991

2. Fatal infantile liver failure associated with mitochondrial DNA depletion;Mazziotta;J. Pediat.,1992

3. Molecular mechanisms in mitochondrial DNA depletion syndrome;Taanman;Hum. Mol. Genet.,1997

4. Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis;Ducluzeau;J. Hepat.,1999

5. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA;Tritschler;Neurology,1992

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