Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We sequenced the exons and flanking intron region from approximately 350 patients displaying a phenotype consistent with POLG related mitochondrial disease and found informative mutations in 61 (17%).
|
18546365 |
2008 |
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
We investigated POLG1 in 136 children, all clinically suspected to have mitochondrial disease, with one or more of the following: ataxia, axonal neuropathy, severe epilepsy without known epilepsy syndrome, epileptic encephalopathy, encephalohepatopathy, or neuropathologically verified Alpers syndrome.
|
21357833 |
2011 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We identified a mitochondrial disease causing missense variation in polymerase domain of POLG1 protein at amino acid 1143 (E1143G) to be 25 times more prevalent in European-Americans (allele frequency 0.03777) when compared to African-American (allele frequency 0.00151) population.
|
26468652 |
2015 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We conclude that mtDNA point mutations do not appear to be directly or indirectly involved in the pathogenesis of mitochondrial disease in patients with different POLG1 mutations.
|
15702133 |
2005 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented.
|
18238797 |
2008 |
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
The combinatorial analyses of mtDNA and POLG revealed a diagnostic yield of 6.7% in patients with suspected mitochondrial disorders but no recognizable syndromes.
|
23463613 |
2013 |
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
The aim of this study was to determine the prevalence of POLG mutations in an adult population of Australian patients with mitochondrial disease, displaying symptoms commonly associated with POLG-related diseases.
|
22647225 |
2013 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Subsequent Sanger sequencing of POLG in a further 275 unrelated probands with genetically unconfirmed mitochondrial disease revealed a third unrelated proband with a similar phenotype harboring homozygous c.1879C>T; p.R627W mutations and a fourth patient, with a milder clinical disorder, harboring compound heterozygous POLG c.1879C>T; p.R627W and c.2341G>A; p.A781T mutations.
|
31425757 |
2019 |
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Sequence analysis of the POLG gene should be considered as a part of routine screening for mitochondrial disorders, even in the absence of apparent mitochondrial DNA abnormalities.
|
21880868 |
2011 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes.
|
28471437 |
2017 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Progressive external ophthalmoplegia (PEO) is a mitochondrial disorder associated with mutations in the POLG gene encoding the mitochondrial DNA polymerase (pol gamma).
|
15258572 |
2004 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our findings suggest that the presence of HOD, in the appropriate clinical setting, should alert the clinician to the possibility of a mitochondrial disorder and the need to screen for mutations in POLG and SURF1 genes.
|
22729384 |
2013 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our clustering method provides a powerful tool to predict the pathogenic potential and predicted disease phenotype of novel variants and mutations in POLG, the most common nuclear gene underlying mitochondrial disorders.
|
24508722 |
2014 |
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Normal muscle and fibroblast studies do no exclude the diagnosis of POLG-related mitochondrial disease and direct sequencing of the POLG gene should be the gold standard when investigating suspected cases.
|
27554452 |
2016 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the polymerase γ (POLG) gene are among the most common causes of mitochondrial disease and more than 160 POLG mutations have been reported.
|
20708716 |
2011 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions.
|
19578034 |
2009 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in POLG have been linked to a spectrum of clinical phenotypes, resulting in autosomal recessive or dominant mitochondrial diseases.
|
28130605 |
2017 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in POLG1 are an important cause of human mitochondrial disease.
|
22778364 |
2010 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in POLG account for one of the most frequent nuclear encoded causes of mitochondrial disorders to date.
|
22405928 |
2012 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in POLG are a major contributor to pediatric and adult mitochondrial diseases.
|
19501198 |
2009 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in POLG1 have been linked to a spectrum of clinical phenotypes, and may account for up to 25% of all adult presentations of mitochondrial disease.
|
19251978 |
2009 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Molecular studies in the POLG gene should be addressed in patients with mitochondrial disease, particularly in those with PEO, and multiple mtDNA deletions.
|
16401742 |
2006 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Molecular studies in the POLG gene should be addressed in patients with mitochondrial disease, particularly in those with PEO, and multiple mtDNA deletions.
|
16401742 |
2006 |
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
|
17088268 |
2006 |
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Missense mutations in the gene for polymerase gamma 1 (POLG1) cause a number of phenotypically heterogeneous mitochondrial diseases, most commonly progressive external ophthalmoplegia, and are characterized by the accumulation of multiple, large-scale deletions of mitochondrial DNA.
|
20513108 |
2010 |