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Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

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Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

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Sivera, R.; Espinós-Armero, CÁ.; Vílchez, JJ.; Mas, F.; Martínez-Rubio, D.; Chumillas, MJ.; Mayordomo, F.... (2010). Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System. 15(4):334-344. https://doi.org/10.1111/j.1529-8027.2010.00286.x

Por favor, use este identificador para citar o enlazar este ítem: http://hdl.handle.net/10251/201215

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Title: Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease
Author: Sivera, Rafael Espinós-Armero, Carmen Ángeles Vílchez, Juan J. Mas, Fernando Martínez-Rubio, Dolores Chumillas, María José Mayordomo, Fernando Muelas, Nuria Bataller, Luis Palau, Francesc Sevilla, Teresa
UPV Unit: Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural
Issued date:
Abstract:
[EN] Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K). Most of these mutations ...[+]
Subjects: ADCMT , Charcot-Marie-Tooth disease , CMT2K , GDAP1 mutations
Copyrigths: Reserva de todos los derechos
Source:
Journal of the Peripheral Nervous System. (eissn: 1085-9489 )
DOI: 10.1111/j.1529-8027.2010.00286.x
Publisher:
Blackwell Publishing
Publisher version: https://doi.org/10.1111/j.1529-8027.2010.00286.x
Project ID:
info:eu-repo/grantAgreement/MICINN//CP08%2F00053/ES/CP08%2F00053/
...[+]
info:eu-repo/grantAgreement/MICINN//CP08%2F00053/ES/CP08%2F00053/
info:eu-repo/grantAgreement/MICINN//PI08%2F90857/ES/RACIONALIZACIÓN DEL DIAGNÓSTICO MOLECULAR DE LAS ENFERMEDADES GENÉTICAS RARAS: EL MODELO DE LA NEUROPATÍA DE CHARCOT-MARIE-TOOTH/
info:eu-repo/grantAgreement/MICINN//PS09%2F00095/ES/BASES GENETICAS Y FISIOPATOLOGIA CELULAR DE LAS NEUROPATIAS PERIFERICAS HEREDITARIAS/
info:eu-repo/grantAgreement/MSC//CM06%2F00154/ES/CM06%2F00154/
info:eu-repo/grantAgreement/FIS//Miguel Servet/
info:eu-repo/grantAgreement/ISCIII//CP08%2F00053/
info:eu-repo/grantAgreement/ISCIII//PI08%2F90857/
info:eu-repo/grantAgreement/ISCIII//PI08%2F0889/
info:eu-repo/grantAgreement/ISCIII//PS09%2F00095//Bases genéticas y fisiopatología celular de las neuropatías periféricas hereditarias/
info:eu-repo/grantAgreement/MICINN//SAF2006-01047/
info:eu-repo/grantAgreement/Conselleria d'Educació, Investigació, Cultura i Esport de la Generalitat Valenciana//Prometeo%2F2009%2F05/
[-]
Thanks:
We are grateful to the propositi and their relatives for their kind collaboration. We also want to thank I. Llopis and M. Escutia for their help with sample management. This work was supported by the Instituto de Salud ...[+]
Type: Artículo

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