Anesthetic management of a patient with sodium-channel myotonia: a case report
Sign Up to like & getrecommendations! Published in 2019 at "JA Clinical Reports"
DOI: 10.1186/s40981-019-0300-8
Abstract: BackgroundSodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is much lower.… read more here.
Keywords: channel myotonia; management patient; myotonia; anesthetic management ... See more keywords
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.00255
Abstract: Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Nav1.4 channel. We describe seven families with a series of symptoms ranging from asymptomatic to clearly myotonic signs that have… read more here.
Keywords: domain nav1; channel myotonia; sodium channel; novel mutations ... See more keywords