ALLELIC DISORDERS CAUSED BY MUTATIONS IN TRPV4

摘要

The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).

主权项

1. A method of detecting a disease in a subject comprising exposing a subject sample to a detection reagent and detecting the presence of mutations in TRPV4 in said sample, thereby detecting disease, wherein said disease is a TRPV4 peripheral neuropathy and bony displasia.