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Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC). The main symptom is stiffness worsening after rest and improving by physical exercise. Patients with recessive m...

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Autors principals: Serena Pagliarani, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2022-08-01
Col·lecció:Frontiers in Neurology
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Accés en línia:https://www.frontiersin.org/articles/10.3389/fneur.2022.845383/full
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