Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

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. Both types are caused by...

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Main Authors: Concetta Altamura, Evgeniya A. Ivanova, Paola Imbrici, Elena Conte, Giulia Maria Camerino, Elena L. Dadali, Alexander V. Polyakov, Sergei Aleksandrovich Kurbatov, Francesco Girolamo, Maria Rosaria Carratù, Jean-François Desaphy
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Neurology
Subjects:
myotonia congenita
ClC-1
chloride channel
patch-clamp
intracellular trafficking
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.01019/full

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https://www.frontiersin.org/article/10.3389/fneur.2020.01019/full

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