Article
Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.
Journal of the peripheral nervous system : JPNS - 1 Sept 2023
Tadenev A L D, Hatton C L, Pattavina B, Mullins T, Schneider R, Bogdanik L P, Burgess Robert W
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease type 1X is caused by mutations in GJB1, which is the second most common gene associated with inherited peripheral neuropathy. The GJB1 gene encodes connexin 32 (CX32), a gap junction protein expressed in myelinating glial cells. The gene is X-linked, and the mutations cause a loss of function. AIMS: A large number of disease-associated variants have been identified, and...
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