Xcode Life

Condition: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

rs104893873 in SLC25A4 gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

PMID 12112115 2002 A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

PMID 11756613 2001 A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.

PMID 10926541 2000 Role of adenine nucleotide translocator 1 in mtDNA maintenance.

PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

PMID 15792871 2005 A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

PMID 18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.