Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism

OBJECTIVE: To identify novel genetic mechanisms causing Charcot-Marie-Tooth (CMT) disease. METHODS: We performed a next-generation sequencing study of 34 genes associated with CMT in a patient with peripheral neuropathy. RESULTS: We found a non–previously described mutation in EGR2 (p.P397H). P397H...

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Detalles Bibliográficos
Autores principales: Blanco-Cantó, Maria Empar, Patel, Nikiben, Velasco-Aviles, Sergio, Casillas-Bajo, Angeles, Salas-Felipe, Juan, García-Escrivá, Alexandre, Díaz-Marín, Carmen, Cabedo, Hugo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164973/
https://www.ncbi.nlm.nih.gov/pubmed/32337334
http://dx.doi.org/10.1212/NXG.0000000000000407

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