Diagnosis of mitochondrial DNA depletion syndromes

[1] Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations [J]. HUMAN MOLECULAR GENETICS, 2008, 17 (16) : 2496 - 2506

[2] Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances [J]. HUMAN MOLECULAR GENETICS, 2007, 16 (12) : 1400 - 1411

[3] Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion [J]. NATURE GENETICS, 2007, 39 (06) : 776 - 780

[4] SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness [J]. BRAIN, 2007, 130 : 862 - 874

[5] DEMOUSSON CB, 2007, BIOCHEM J, V402, P377

[6] Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase [J]. HUMAN MUTATION, 2008, 29 (02) : 330 - 331

[7] Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (06) : 1081 - 1086

[8] Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA [J]. BRAIN, 2005, 128 : 723 - 731

[9] Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations [J]. ARCHIVES OF NEUROLOGY, 2006, 63 (08) : 1129 - 1134

[10] Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion [J]. BRAIN, 2007, 130 : 3032 - 3040

[1] Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations [J]. HUMAN MOLECULAR GENETICS, 2008, 17 (16) : 2496 - 2506

[2] Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances [J]. HUMAN MOLECULAR GENETICS, 2007, 16 (12) : 1400 - 1411

[3] Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion [J]. NATURE GENETICS, 2007, 39 (06) : 776 - 780

[4] SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness [J]. BRAIN, 2007, 130 : 862 - 874

[5] DEMOUSSON CB, 2007, BIOCHEM J, V402, P377

[6] Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase [J]. HUMAN MUTATION, 2008, 29 (02) : 330 - 331

[7] Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (06) : 1081 - 1086

[8] Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA [J]. BRAIN, 2005, 128 : 723 - 731

[9] Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations [J]. ARCHIVES OF NEUROLOGY, 2006, 63 (08) : 1129 - 1134

[10] Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion [J]. BRAIN, 2007, 130 : 3032 - 3040