Charcot-Marie-Tooth disease type 1X (CMTX)

Genetics

• defects in GJB1 are the cause of Charcot-Marie-Tooth disease, X-linked dominant, 1
• 2 families with point mutation, one with frameshift mutation described

Laboratory

• GJB1 genotyping

More general terms

• Charcot-Marie-Tooth disease type 1

Database

• OMIM: https://mirror.omim.org/entry/302800