Condition: Scapuloperoneal Form of Spinal Muscular Atrophy
rs267607145
in
TRPV4
gene and
Scapuloperoneal Form of Spinal Muscular Atrophy
PMID 20037587
2010 Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
PMID 22702953
2012 Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.