Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls
Journal of Neurology, Neurosurgery & Psychiatry, 08/08/2012
Fawcett KA et al. – In this comprehensive analysis of the TRPV4 gene, they identified mutations in <1% of patients with Charcot–Marie–Tooth type 2 (CMT2)/distal hereditary motor neuropathy (dHMN). The authors 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.