Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 (PEOA4)

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4, also known as peoa4, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 and mitochondrial neurogastrointestinal encephalomyopathy, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit), and among its related pathways/superpathways are Metabolism of nucleotides and Pyrimidine metabolism. The drugs 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and liver, and related phenotypes are seizure and failure to thrive