Patent ID: 8394589

Claim:
A method of diagnosing a human subject with scapuloperoneal spinal muscular atrophy (SPSMA) and/or Charcot-Marie-Tooth disease type 2C (CMT2C) or identifying said subject as a carrier thereof, comprising: (a) assaying a biological sample from said human subject to identify a thymine present at position 946 of exon 6 of the TRPV4 gene; (b) assaying said biological sample from said human subject to identify an adenine present at position 806 of exon 5 of the TRPV4 gene; and (c) diagnosing said human subject as having or being a carrier of: (i) SPSMA based on the presence of said thymine present at position 946 of exon 6 of the TRPV4 gene, and/or (ii) CMT2C based on the presence of said adenine present at position 806 of exon 5 of the TRPV4 gene.