Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
Gerrit Maximilian GrosseChristine BauerBruno KoppChristoph SchraderAlma OsmanovicPublished in: BMC medical genetics (2020)
We, for the first time, present a SEPT9 variant associated to a CMT phenotype and suggest SEPT9 as new sufficient candidate gene in CMT.