GJB1 gene mutation; connexin-32 gene mutation

Clinical significance

• defects in GJB1 are the cause of Charcot-Marie-Tooth disease, X-linked dominant, 1
• defects in GJB1 are Dejerine-Sottas syndrome

More general terms

• gene mutation testing; gene mutation analysis
• GJB1 genotyping

Additional terms

• connexin-32; gap junction protein beta-1 (CX32, GJB1)