Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 dif...

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Detalles Bibliográficos
Autores principales: Panosyan, Francis B., Laura, Matilde, Rossor, Alexander M., Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W., Lewis, Richard A., Day, John, Horvath, Rita, Herrmann, David N., Shy, Michael E., Pareyson, Davide, Reilly, Mary M., Scherer, Steven S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577965/
https://www.ncbi.nlm.nih.gov/pubmed/28768847
http://dx.doi.org/10.1212/WNL.0000000000004296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577965/
https://www.ncbi.nlm.nih.gov/pubmed/28768847
http://dx.doi.org/10.1212/WNL.0000000000004296

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