[Molecular genetics of sodium channel myopathies].

Abstract excerpt

The common molecular basis of hyperkalemic periodic paralysis, of paramyotonia congenita and that of myotonia fluctuans are the mutations of sodium channel SCN4A gene. The mutations result in an increased probability of channel openings at rest, or slightly decreased membrane potentials, and in delayed channel inactivation, both contributing either to myotonia or paralysis. Because of the lack of a sufficient...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Mutation
• Share to Myotonia
• Share to Myotonia Congenita