Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Rafael SiveraVincenzo LupoMarina FrasquetHerminia Argente-EscrigJorge Alonso-PérezJordi Díaz-ManeraLuis QuerolMaría Del Mar García-RomeroSamuel Ignacio PascualTania García-SobrinoCarmen ParadasJuan Francisco Vázquez CostaNuria MuelasElvira MilletJuan Jesús VílchezCarmen EspinósTeresa SevillaPublished in: European journal of neurology (2021)
MORC2 mutations are a rare cause of CMT in Spain, but in-depth phenotyping reveals a recognizable phenotypic spectrum that will be clinically relevant for future identification of this disease.
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