Comprehensive analysis of the<i>TRPV4</i>gene in a large series of inherited neuropathies and controls

Abstract

In this comprehensive analysis of the TRPV4 gene, we identified mutations in <1% of patients with CMT2/dHMN. We found that TRPV4 likely harbours many missense and nonsense non-pathogenic variants that should be analysed in detail to prove pathogenicity before results are given to patients.