EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.

@article{Horie2020EFHM,
  title={EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.},
  author={Riho Horie and Tomoya Kubota and Jinsoo Koh and Rieko Tanaka and Yuichiro Nakamura and Ryogen Sasaki and Hidefumi Ito and Masanori P. Takahashi},
  journal={Muscle & nerve},
  year={2020}
}
  • Riho Horie, Tomoya Kubota, +5 authors Masanori P. Takahashi
  • Published in Muscle & nerve 2020
  • Medicine
  • INTRODUCTION Mutations of the voltage-gated sodium channel gene (SCN4A), which encodes Nav1.4, cause non-dystrophic myotonia that occasionally is associated with severe apnea and laryngospasm. There are case reports of non-dystrophic myotonia due to mutations in the C-terminal tail (CTerm) of Nav1.4, but the functional analysis is scarce. METHODS We present two families with non-dystrophic myotonia harboring a novel heterozygous mutation (E1702del) and a known heterozygous mutation (E1702K… CONTINUE READING

    Create an AI-powered research feed to stay up to date with new papers like this posted to ArXiv