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.