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POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
- Source :
-
Neurology [Neurology] 2006 May 09; Vol. 66 (9), pp. 1439-41. - Publication Year :
- 2006
-
Abstract
- The authors sequenced POLG1, C10ORF2, and ANT1 in 38 sporadic progressive external ophthalmoplegia patients with multiple mitochondrial DNA (mtDNA) deletions. Causative mutations were identified in approximately 10% of cases, with two unrelated individuals harboring a novel premature stop codon mutation (1356T>G). None had a mutation in C10ORF2 or ANT1. In the majority of patients, the primary nuclear genetic defect is likely to affect other unknown genes important for mtDNA maintenance.
- Subjects :
- Amino Acid Sequence
Amino Acid Substitution
Blotting, Southern
Cohort Studies
Computer Systems
DNA Helicases
DNA Mutational Analysis
DNA Polymerase gamma
False Negative Reactions
Female
Genetic Predisposition to Disease
Germany
Humans
Male
Mitochondrial Myopathies genetics
Mitochondrial Proteins
Molecular Sequence Data
Phenotype
Point Mutation
Polymerase Chain Reaction methods
Sequence Alignment
Sequence Homology, Amino Acid
United Kingdom
Adenine Nucleotide Translocator 1 genetics
DNA Primase genetics
DNA, Mitochondrial genetics
DNA-Directed DNA Polymerase genetics
Ophthalmoplegia, Chronic Progressive External genetics
Sequence Deletion
Subjects
Details
- Language :
- English
- ISSN :
- 1526-632X
- Volume :
- 66
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 16682683
- Full Text :
- https://doi.org/10.1212/01.wnl.0000210486.32196.24