Article
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
Human molecular genetics - 1 Jan 2015
Pla-Martín David, Calpena Eduardo, Lupo Vincenzo, Márquez Celedonio, Rivas Eloy, Sivera Rafael, Sevilla Teresa, Palau Francesc, Espinós Carmen
Abstract excerpt
Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), in which carriers of the GDAP1 p.R120W mutation can display a wide range of clinical severity. We investigated the JPH1 gene as a genetic modifier of clinical expression variability because...
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