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A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

We describe the case of a six year old boy with findings consistent with myotonia congenita: muscular hypertrophy, stiffness when commencing movements and typical warm-up signs. The most prominent symptom was myotonia of the eyelid muscles with apparent swelling around the eyes. Even though the pron...

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Detalles Bibliográficos
Autores principales:	Ørstavik, Kristin, Wallace, Sean Ciaran, Torbergsen, Torberg, Abicht, Angela, Erik Tangsrud, Svein, Kerty, Emilia, Rasmussen, Magnhild
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240542/ https://www.ncbi.nlm.nih.gov/pubmed/27858731 http://dx.doi.org/10.3233/JND-150069

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