Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

CMT1X, an X-linked inherited neuropathy, is caused by mutations in GJB1, which codes for Cx32, a gap junction protein expressed by Schwann cells and oligodendrocytes. Many GJB1 mutations cause central nervous system (CNS) abnormality in males, including stable subclinical signs and, less often, shor...

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Detalles Bibliográficos
Autores principales: Abrams, Charles K., Goman, Mikhail, Wong, Sarah, Scherer, Steven S., Kleopa, Kleopas A., Peinado, Alejandro, Freidin, Mona M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223219/
https://www.ncbi.nlm.nih.gov/pubmed/28071741
http://dx.doi.org/10.1038/srep40166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223219/
https://www.ncbi.nlm.nih.gov/pubmed/28071741
http://dx.doi.org/10.1038/srep40166

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