Condition: Depletion of mitochondrial DNA


rs201889294 in FBXL4 gene and Depletion of mitochondrial DNA PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 27099744 2016 Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.

rs138929605 in POLG gene and Depletion of mitochondrial DNA PMID 24508722 2014 Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

PMID 22357363 2012 A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.

PMID 22114710 2011 Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision.

PMID 25203713 2014 POLG1-related levodopa-responsive parkinsonism.

PMID 28337550 2017 "Common genetic etiology between ""multiple sclerosis-like"" single-gene disorders and familial multiple sclerosis."

PMID 22000311 2011 Alpers syndrome with mutations in POLG: clinical and investigative features.

PMID 21301859 2011 Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 18487244 2008 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

PMID 26095671 2015 The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.

rs281865494 in TK2 gene and Depletion of mitochondrial DNA PMID 25446393 2015 Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

PMID 16504786 2006 New mutations in TK2 gene associated with mitochondrial DNA depletion.