TY  - JOUR
AU  - Sivera, Rafael
AU  - Frasquet, Marina
AU  - Lupo, Vincenzo
AU  - García-Sobrino, Tania
AU  - Blanco-Arias, Patricia
AU  - Pardo, Julio
AU  - Fernández-Torrón, Roberto
AU  - de Munain, Adolfo López
AU  - Márquez-Infante, Celedonio
AU  - Villarreal, Liliana
AU  - Carbonell, Pilar
AU  - Rojas-García, Ricard
AU  - Segovia, Sonia
AU  - Illa, Isabel
AU  - Frongia, Anna Lia
AU  - Nascimento, Andrés
AU  - Ortez, Carlos
AU  - García-Romero, María Del Mar
AU  - Pascual, Samuel Ignacio
AU  - Pelayo-Negro, Ana Lara
AU  - Berciano, José
AU  - Guerrero, Antonio
AU  - Casasnovas, Carlos
AU  - Camacho, Ana
AU  - Esteban, Jesús
AU  - Chumillas, María José
AU  - Barreiro, Marisa
AU  - Díaz, Carmen
AU  - Palau, Francesc
AU  - Vílchez, Juan Jesús
AU  - Espinós, Carmen
AU  - Sevilla, Teresa
PY  - 2017
DO  - 10.1038/s41598-017-06894-6
UR  - http://hdl.handle.net/10668/11448
T2  - Scientific reports
AB  - Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study...
LA  - en
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Charcot-Marie-Tooth Disease
KW  - Child
KW  - Child, Preschool
KW  - Cross-Sectional Studies
KW  - Female
KW  - Genetic Association Studies
KW  - Geography, Medical
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Retrospective Studies
KW  - Spain
KW  - Young Adult
TI  - Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
TY  - research article
VL  - 7
ER  -