Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 66 (9), 1439-41

POLG1, C10ORF2, and ANT1 Mutations Are Uncommon in Sporadic Progressive External Ophthalmoplegia With Multiple Mitochondrial DNA Deletions

Affiliations

POLG1, C10ORF2, and ANT1 Mutations Are Uncommon in Sporadic Progressive External Ophthalmoplegia With Multiple Mitochondrial DNA Deletions

G Hudson et al. Neurology.

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.

Similar articles

See all similar articles

Cited by 13 PubMed Central articles

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources

Feedback