Home > E. Pathology by systems > Nervous system > Peripheral nerves > CMTX1
CMTX1
MIM.302800 Xq13.1
Sunday 5 February 2006
Etiology
CMTX1 is caused by mutation in the GJB1 gene (MIM.304040)
coding for gap junction protein connexin-32 (GJB1), which is located on the X chromosome.