Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1

The second most common form of Charcot-Marie-Tooth neuropathy (CMT), X-linked CMT type X1 (CMTX1), is caused by coding and non-coding mutations in the gap junction beta 1 (GJB1) gene. The non-coding GJB1 c.-103C > T mutation (NM_000166.5) has been reported to cause CMTX1 in multiple families. Thi...

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Detalles Bibliográficos
Autores principales: Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241655/
https://www.ncbi.nlm.nih.gov/pubmed/34089394
http://dx.doi.org/10.1007/s10048-021-00650-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241655/
https://www.ncbi.nlm.nih.gov/pubmed/34089394
http://dx.doi.org/10.1007/s10048-021-00650-9

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