Article
CMT1X phenotypes represent loss of GJB1 gene function.
Neurology - 13 Mar 2007
Shy M E, Siskind C, Swan E R, Krajewski K M, Doherty T, Fuerst D R, Ainsworth P J, Lewis R A, Scherer S S, Hahn A F
Abstract excerpt
OBJECTIVE: To investigate possible genotype-phenotype correlations and to evaluate the natural history of patients with Charcot-Marie-Tooth disease type 1X (CMT1X). BACKGROUND: CMT1X is caused by over 260 distinct mutations in the gap junction beta 1 (GJB1) gene, located on the X chromosome, which encodes the gap junction protein connexin 32 (Cx32). The natural history of CMT1X is poorly understood, and it...
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