Novel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports

Introduction: Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia. Methods: We repo...

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Detalles Bibliográficos
Autores principales: Lakraj, Amanda Amrita, Miller, Geoffrey, Vortmeyer, Alexander O., Khokhar, Babar, Nowak, Richard J., DiCapua, Daniel B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: YJBM 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584487/
https://www.ncbi.nlm.nih.gov/pubmed/23483815

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