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Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1 |
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| Authors: | Grosz Bianca R Svaren John Perez-Siles Gonzalo Nicholson Garth A Kennerson Marina L |
| Abstract: | neurogenetics - 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)... |
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