Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

Abstract

These data confirm that MPV17 mutations are associated with a 2-stage syndrome. The first symptoms are metabolic and rapidly progress to hepatic failure. This stage is followed by neurologic involvement affecting the central and peripheral systems.

References

Page 1

	Year	Citations
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy Ann Saada, Avraham Shaag, Hanna Mandel, Nature Genetics Mitochondrial MyopathyMitochondrial FunctionNatural SciencesGeneticsDna Replication	2001	614
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA Hanna Mandel, Raymonde Szargel, Valentina Labay, Nature Genetics Mitochondrial FunctionNatural SciencesGeneticsBiochemical GeneticsMolecular Biology	2001	582
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion Alice Bourdon, Limor Minai, Valérie Serre, Nature Genetics Genome InstabilityMitochondrial FunctionP53-controlled Ribonucleotide ReductaseGeneticsNatural Sciences	2007	517
<i>POLG</i> mutations associated with Alpers' syndrome and mitochondrial DNA depletion Robert K. Naviaux, Khue Vu Nguyen Annals of Neurology Neurodegenerative DiseasesMendelian DisorderGenetic DisorderNatural SciencesGenetics	2004	456
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra, Nature Genetics Mitochondrial BiogenesisMitochondrial FunctionNatural SciencesLiver PhysiologyGenetics	2006	416
Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya Miller, Eli Hershkovitz, The American Journal of Human Genetics Cellular EnzymologyMitochondrial FunctionBiochemistryNatural SciencesGenetics	2005	311
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A Giovanfrancesco Ferrari Brain GeneticsMolecular BiologyPathologyMolecular GeneticsInfantile Hepatocerebral Syndromes	2005	289
Clinical and molecular findings in children with complex I deficiency Marianna Bugiani, Federica Invernizzi, Simona Alberio, Biochimica et Biophysica Acta (BBA) - Bioenergetics Down SyndromePrimary ImmunodeficiencyDevelopmental AnomalyMolecular FindingsAutoimmune Disease	2004	259
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion Anna H. Hakonen, Pirjo Isohanni, Anders Paetau, Brain	2007	197
Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion Elsebet Østergaard, Ernst Christensen, Elisabeth Kristensen, The American Journal of Human Genetics α SubunitMitochondrial FunctionBiochemistryNatural SciencesGenetics	2007	182

Page 1