title: POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
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.
authors: Mitochondrial Research Group, The Medical School, University of Newcastle upon Tyne, UK.
authors: G
authors: G
authors: Hudson
authors: M
authors: M
authors: Deschauer
authors: R W
authors: RW
authors: Taylor
authors: M G
authors: MG
authors: Hanna
authors: D
authors: D
authors: Fialho
authors: A M
authors: AM
authors: Schaefer
authors: L-P
authors: LP
authors: He
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authors: E
authors: Blakely
authors: D M
authors: DM
authors: Turnbull
authors: P F
authors: PF
authors: Chinnery