TY  - JOUR
AU  - Sivera, Rafael
AU  - Lupo, Vincenzo
AU  - Frasquet, Marina
AU  - Argente-Escrig, Herminia
AU  - Alonso-Pérez, Jorge
AU  - Díaz-Manera, Jordi
AU  - Querol, Luis
AU  - Del Mar García-Romero, María
AU  - Ignacio Pascual, Samuel
AU  - García-Sobrino, Tania
AU  - Paradas, Carmen
AU  - Francisco Vázquez-Costa, Juan
AU  - Muelas, Nuria
AU  - Millet, Elvira
AU  - Jesús Vílchez, Juan
AU  - Espinós, Carmen
AU  - Sevilla, Teresa
PY  - 2021
DO  - 10.1111/ene.15001
UR  - http://hdl.handle.net/10668/18057
T2  - European journal of neurology
AB  - 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...
LA  - en
KW  - MORC2
KW  - CMT2Z
KW  - Charcot-Marie-Tooth disease
KW  - Spain
KW  - Charcot-Marie-Tooth Disease
KW  - Humans
KW  - Mutation
KW  - Phenotype
KW  - Retrospective Studies
KW  - Spain
KW  - Transcription Factors
TI  - Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
TY  - research article
VL  - 28
ER  -