Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Marina FrasquetRicardo Rojas-GarcíaHerminia Argente-EscrigJuan Francisco Vázquez CostaNuria MuelasJuan Jesus VilchezRafael SiveraElvira MilletMarisa BarreiroJordi Díaz-ManeraJanina Turon-SansElena Cortés-VicenteLuis Antonio Querol-GutiérrezLaura Ramírez-JiménezDolores Martínez-RubioAna Sánchez-MonteagudoCarmen EspinósTeresa SevillaVincenzo LupoPublished in: European journal of neurology (2021)
This study confirms the genetic heterogeneity of dHMN and that biallelic SORD mutations are a cause of dHMN in different populations.