Charcot-Marie-Tooth disease type 2 subtype C(English)

• a very rare subtype of CMT2, caused by defects in the TRPV4 gene, located on chromosome 12, which encodes for a protein forming a calcium channel. In addition to the typical CMT symptoms, these patients experience other symptoms, including hearing loss caused by nerve damage in the inner ear, weakness in the vocal cords causing a hoarse voice, and weakness of the diaphragm, causing breathing problems
• Neuropathy, ENT, Calcium
• https://charcot…th-type-2-cmt2/