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Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

OBJECTIVES: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. METHODS: A thorough genetic screening, including most of the known genes involved in this disease,...

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Autores principales: Sivera, Rafael, Sevilla, Teresa, Vílchez, Juan Jesús, Martínez-Rubio, Dolores, Chumillas, María José, Vázquez, Juan Francisco, Muelas, Nuria, Bataller, Luis, Millán, José María, Palau, Fancesc, Espinós, Carmen
Formato: Artigo
Lenguaje:Inglês
Publicado: Lippincott Williams & Wilkins 2013
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3806911/
https://ncbi.nlm.nih.gov/pubmed/24078732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a9f56a
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