Article
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
European journal of neurology - 1 Sept 2021
Sivera Rafael, Lupo Vincenzo, Frasquet Marina, Argente-Escrig Herminia, Alonso-Pérez Jorge, Díaz-Manera Jordi, Querol Luis, Del Mar García-Romero María, Ignacio Pascual Samuel, García-Sobrino Tania, Paradas Carmen, Francisco Vázquez-Costa Juan, Muelas Nuria, Millet Elvira, Jesús Vílchez Juan, Espinós Carmen, Sevilla Teresa
Abstract excerpt
BACKGROUND AND PURPOSE: MORC2 mutations have been described as a rare cause of axonal Charcot-Marie-Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of these mutations throughout Spain, to provide a comprehensive phenotypical description and, if possible, to establish a genotype-phenotype correlation. METHODS: Retrospectively, data on patients diagnosed with CMT2Z in...
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