Abstract
Defects of skeletal muscle sodium channel gene, SCN4A, are responsible for several forms of non-dystrophic myotonia. Hitherto, all of the disease mutations of SCN4A are located in coding regions and the mutated channels show gain of function defect, disruption of fast inactivation and/or enhancement of activation. We found a patient with myotonia caused by aberrantly spliced channel due to a mutation located at an intron of SCN4A. Furthermore, the electrophysiological analysis of the mutant channel revealed gain of function defect, disruption of fast inactivation.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.