Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
About this item
Full title
Author / Creator
Sivera, Rafael , Frasquet, Marina , Lupo, Vincenzo , García-Sobrino, Tania , Blanco-Arias, Patricia , Pardo, Julio , Fernández-Torrón, Roberto , de Munain, Adolfo López , Márquez-Infante, Celedonio , Villarreal, Liliana , Carbonell, Pilar , Rojas-García, Ricard , Segovia, Sonia , Illa, Isabel , Frongia, Anna Lia , Nascimento, Andrés , Ortez, Carlos , García-Romero, María del Mar , Pascual, Samuel Ignacio , Pelayo-Negro, Ana Lara , Berciano, José , Guerrero, Antonio , Casasnovas, Carlos , Camacho, Ana , Esteban, Jesús , Chumillas, María José , Barreiro, Marisa , Díaz, Carmen , Palau, Francesc , Vílchez, Juan Jesús , Espinós, Carmen and Sevilla, Teresa
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 analyzed the clinical and genetic characteristics of patients with
GDAP1
mutations acros...
Alternative Titles
Full title
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Authors, Artists and Contributors
Author / Creator
Frasquet, Marina
Lupo, Vincenzo
García-Sobrino, Tania
Blanco-Arias, Patricia
Pardo, Julio
Fernández-Torrón, Roberto
de Munain, Adolfo López
Márquez-Infante, Celedonio
Villarreal, Liliana
Carbonell, Pilar
Rojas-García, Ricard
Segovia, Sonia
Illa, Isabel
Frongia, Anna Lia
Nascimento, Andrés
Ortez, Carlos
García-Romero, María del Mar
Pascual, Samuel Ignacio
Pelayo-Negro, Ana Lara
Berciano, José
Guerrero, Antonio
Casasnovas, Carlos
Camacho, Ana
Esteban, Jesús
Chumillas, María José
Barreiro, Marisa
Díaz, Carmen
Palau, Francesc
Vílchez, Juan Jesús
Espinós, Carmen
Sevilla, Teresa
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_0faa7f5c1e624b5b885d1c7b72e34039
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0faa7f5c1e624b5b885d1c7b72e34039
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-06894-6
