Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.

Discussion: Residue G1306 Neonatal laryngospasm and unusual distribution of myotonia, muscle hypertrophy, and weakness encourage direct search for the G1306E mutation, a hotspot for de-novo mutations. Successful therapy with the sodium channel blocker flecainide is due to stabilization of the inactivated state and special effectiveness for enlarged window currents. Our G1306E collection is the first genetically clarified case series from newborn period to adulthood and therefore helpful for counselling. PMID: 29774303 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research