Condition: OPTIC ATROPHY 5 (disorder)


rs1555119216 in DNM1L gene and OPTIC ATROPHY 5 (disorder) PMID 28969390 2017 Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

rs863223953 in YARS2;DNM1L gene and OPTIC ATROPHY 5 (disorder) PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.