Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

In myotonic dystrophy (dystrophia myotonica [DM]), an increase in the excitability of skeletal muscle leads to repetitive action potentials, stiffness, and delayed relaxation. This constellation of features, collectively known as myotonia, is associated with abnormal alternative splicing of the musc...

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Bibliografiske detaljer
Main Authors: Wheeler, Thurman M., Lueck, John D., Swanson, Maurice S., Dirksen, Robert T., Thornton, Charles A.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2007
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2075481/
https://ncbi.nlm.nih.gov/pubmed/18008009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI33355
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