The authors sequenced POLG1,C10ORF2,and ANT1 in 38 sporadic progressive external ophthalmoplegia patients withmultiple mitochondrial DNA(mtDNA)deletions.Cau-sative mutations were identified in approximately 10% of cas...The authors sequenced POLG1,C10ORF2,and ANT1 in 38 sporadic progressive external ophthalmoplegia patients withmultiple mitochondrial DNA(mtDNA)deletions.Cau-sative 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.展开更多
文摘The authors sequenced POLG1,C10ORF2,and ANT1 in 38 sporadic progressive external ophthalmoplegia patients withmultiple mitochondrial DNA(mtDNA)deletions.Cau-sative 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.
