Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Silvia CiprianiMarta Guerrero-ValeroStefano TozzaEdward ZhaoVeith VollmerDanique BeijerMatt DanziCristina RivelliniDejan LazarevicGiovanni Battista PipitoneBianca Rose GroszCostanza LampertiStefania Bianchi MarzoliPaola CarreraMarcella DevotoChiara PisciottaDavide PareysonMarina KennersonStefano Carlo PrevitaliStephan ZuchnerSteven S SchererFiore ManganelliMartin BählerAlessandra BolinoPublished in: European journal of neurology (2022)
Novel or very rare variants in MYO9B are associated with CMT2 and isolated OA.