Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

Abstract

BackgroundTRPV4 mutations have been identified in Charcot–Marie–Tooth type 2 (CMT2), scapuloperoneal spinal muscular atrophy and distal hereditary motor neuropathy (dHMN).ObjectiveWe aimed to screen the TRPV4 gene in 422 British patients...