1. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
- Author
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Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He LP, Blakely E, Turnbull DM, and Chinnery PF
- 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
- 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.
- Published
- 2006
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