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Focal and abnormally persistent paralysis associated with congenital paramyotonia

Mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. Focal paresis has sometimes already been described. We report a case with atypical clinical manifestation comprising paramyotonia a...

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Autors principals: Magot, Armelle, David, Albert, Sternberg, Damien, Péréon, Yann
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4069699/
https://ncbi.nlm.nih.gov/pubmed/24939454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-204430
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