Disease name

Autosomal dominant Charcot-Marie-Tooth disease type 2C
 Autosomal dominant Charcot-Marie-Tooth disease type 2C

Marker gene

Gene symbol Chromosome location Protein name
TRPV4 12q24.11 Transient receptor potential cation channel subfamily V member 4

Inheritance

상염색체 우성

ICD 10 code

Q60.0

MIM number

606071

Synonym

CMT2C

Summary

Under development.