Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
June 27th, 2008Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved in mtDNA replication and stability. They include ...