Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

References

Page 1

	Year	Citations
Case report 3 Murray K. Dalinka, R. E. Brennan, Arthur S. Patchefsky Skeletal Radiology Clinical Case ReportLawCriminal LawCase AnalysisCase Report 3	1976	4.1K
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder Ichizo Nishino, Antonella Spinazzola, Michio Hirano Science Mitochondrial MyopathyMendelian DisorderMitochondrial FunctionGenetic DisorderAberrant Thymidine Metabolism	1999	892
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy Ann Saada, Avraham Shaag, Hanna Mandel, Nature Genetics Mitochondrial MyopathyMitochondrial FunctionNatural SciencesGeneticsDna Replication	2001	614
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Carlos T. Moraes, Sara Shanske, Hans Tritschler, PubMed	1991	590
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
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gene Rita Horváth Brain GeneticsMolecular BiologyPathologyMolecular GeneticsPolymerase Gamma	2006	396
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

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