Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

doi:10.1038/s41598-017-06894-6

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Article

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

Scientific reports - 27 Jul 2017

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, Sevilla Teresa

Abstract excerpt

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 across Spain. 99 patients were identified, which were distributed across most of...

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Identifiers

PMID: 28751717
DOI: 10.1038/s41598-017-06894-6
PMCID: PMC5532232

Genes

GDAP1

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