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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenine Nucleotide Translocator 1 / genetics*
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Amino Acid Sequence
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Amino Acid Substitution
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Blotting, Southern
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Cohort Studies
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Computer Systems
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DNA Helicases
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DNA Mutational Analysis
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DNA Polymerase gamma
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DNA Primase / genetics*
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DNA, Mitochondrial / genetics*
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DNA-Directed DNA Polymerase / genetics*
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False Negative Reactions
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Female
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Genetic Predisposition to Disease
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Germany
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Humans
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Male
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Mitochondrial Myopathies / genetics
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Mitochondrial Proteins
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Molecular Sequence Data
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Ophthalmoplegia, Chronic Progressive External / genetics*
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Phenotype
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Point Mutation
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Polymerase Chain Reaction / methods
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Sequence Alignment
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Sequence Deletion*
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Sequence Homology, Amino Acid
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United Kingdom
Substances
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Adenine Nucleotide Translocator 1
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DNA, Mitochondrial
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Mitochondrial Proteins
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DNA Primase
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase
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POLG protein, human
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DNA Helicases
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TWNK protein, human