Missense mutations in NaV1.4 identified in patients with recessive myasthenic congenital myopathy

Takeaway

  • Missense mutations of the R1460 residue in the skeletal muscle sodium (Na) channel have been identified in two families with recessive myasthenic congenital myopathy.

Why this matters

  • Identification of novel missense mutations in patients with recessive myasthenic congenital myopathy may increase understanding around the genetic basis for this skeletal muscle disorder.