|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
All patients (age range = 16-78 years; 31 men; 58 progressive external ophthalmoplegia [PEO], 12 myoclonic epilepsy with ragged red fibres [MERRF], eight mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes [MELAS], two mitochondrial neurogastrointestinal encephalomyopathy [MNGIE] and 13 other MDs) underwent a structured diagnostic headache interview using an operational diagnostic tool following the IHS criteria.
|
28762753 |
2018 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Therefore, we suggest that C10orf2 gene should be screened in CPEO individuals with multiple mtDNA deletions, which might help in prognosis of this disease and appropriate genetic counseling.
|
26689116 |
2016 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO).
|
26838077 |
2016 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly.
|
24018892 |
2013 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis.
|
24014582 |
2013 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism.
|
21301859 |
2011 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the human C10orf2 gene, encoding the mitochondrial DNA (mtDNA) helicase, co-segregate with mitochondrial diseases such as adult-onset progressive external ophthalmoplegia, hepatocerebral syndrome with mtDNA depletion syndrome, and infantile-onset spinocerebellar ataxia.
|
20659899 |
2010 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of the PEO1 gene should be considered in adPEO patients prior to muscle biopsy.
|
20479361 |
2010 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.
|
19705478 |
2010 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Whereas PEO1 mutations were not found in our cohort, POLG frequently caused ataxia with PEO (47%), psychiatric comorbidities (20%) and, more rarely, with epilepsy (14%).
|
20803511 |
2010 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
|
18971204 |
2009 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
Biomarker
|
disease |
LHGDN |
Six novel missense mutations contributing to the mutational load of PEO1 gene (p.R334P, p.W315S, p. S426N, p.W474S, p.F478I, p.E479K) were associated with an adult onset PEO phenotype.
|
18575922 |
2008 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A).
|
18195150 |
2008 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Six novel missense mutations contributing to the mutational load of PEO1 gene (p.R334P, p.W315S, p. S426N, p.W474S, p.F478I, p.E479K) were associated with an adult onset PEO phenotype.
|
18575922 |
2008 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
|
17722119 |
2007 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Microsatellite analysis and screening of the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1), and polymerase gamma-1 (POLG1) genes.
|
17420318 |
2007 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle).
|
15668446 |
2005 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
At least three nuclear genes are responsible for these disorders: ANT1 and C10orf2 cause autosomal dominant PEO, while mutations of DNA polymerase gammaA (POLG1 or POLG) gene on chromosome 15q25 causes both autosomal dominant and recessive forms of PEO.
|
14635118 |
2003 |
|
Chronic progressive external ophthalmoplegia
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Chronic progressive external ophthalmoplegia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|