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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Veröffentlicht in:Front Neurol
Hauptverfasser: Altamura, Concetta, Ivanova, Evgeniya A., Imbrici, Paola, Conte, Elena, Camerino, Giulia Maria, Dadali, Elena L., Polyakov, Alexander V., Kurbatov, Sergei Aleksandrovich, Girolamo, Francesco, Carratù, Maria Rosaria, Desaphy, Jean-François
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2020
Schlagworte:
Neurology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7500137/
https://ncbi.nlm.nih.gov/pubmed/33013670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.01019
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