ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Javier Cabello-MurguiJesús Jiménez-JiménezJuan Jesus VilchezInmaculada AzorínPilar MartíElvira MilletVincenzo LupoTeresa SevillaRafael SiveraPublished in: European journal of neurology (2024)
R3, we hypothesize that this variant could start as nodal dysfunction that progresses to widespread nerve degeneration.