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 loss-of-f...
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| Hoofdauteurs: | , , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Frontiers Media S.A.
2020-09-01
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| Reeks: | Frontiers in Neurology |
| Onderwerpen: | |
| Online toegang: | https://www.frontiersin.org/article/10.3389/fneur.2020.01019/full |
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