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A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant

The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogenous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia and hypokalemic periodic paralysis type 2. This case report propose...

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Publicado en:J Mol Neurosci
Autores principales: Benhammou, Jihane N., Phan, Jennifer, Lee, Hane, Ghassemi, Kevin, Parsons, William, Grody, Wayne W., Pisegna, Joseph R.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5346050/
https://ncbi.nlm.nih.gov/pubmed/28012096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12031-016-0878-5
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