Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia
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DOI: 10.3389/fneur.2020.01019
Abstract: Objective: Myotonia congenita (MC) is a rare muscle disease characterized by sarcolemma over-excitability inducing skeletal muscle stiffness. It can be inherited either as an autosomal dominant (Thomsen's disease) or an autosomal recessive (Becker's disease) trait.… read more here.
Keywords: g411c; mutant channels; myotonia; becker ... See more keywords