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Q47713821-157D7DE2-C979-430E-A061-678286FD0B9D
Q47713821-157D7DE2-C979-430E-A061-678286FD0B9D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47713821-157D7DE2-C979-430E-A061-678286FD0B9D
Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission.
P2860
Q47713821-157D7DE2-C979-430E-A061-678286FD0B9D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47713821-157D7DE2-C979-430E-A061-678286FD0B9D
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Statement
wasDerivedFrom
6fbf7bfcbe64a3cfc01c5be249c7ac062eb52b27
P2860
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.