Novel genetic mutation causes congenital spinal muscular atrophy and arthrogryposis

Takeaway

  • Novel homozygous mutation in TRPV4 gene identified as a cause of the recessive form of congenital spinal muscular atrophy and arthrogryposis (CSMAA).

Why this matters ?

  • Identifying TRPV4 p.S94L as a cause of the recessive form of CSMAA and understanding the functional consequences of this mutation are essential steps towards future development of specific therapies to help people with this disease.