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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Detalles Bibliográficos
Autores principales: Pagliarani, Serena, Meola, Giovanni, Filareti, Melania, Comi, Giacomo Pietro, Lucchiari, Sabrina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9447429/
https://www.ncbi.nlm.nih.gov/pubmed/36081873
http://dx.doi.org/10.3389/fneur.2022.845383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9447429/
https://www.ncbi.nlm.nih.gov/pubmed/36081873
http://dx.doi.org/10.3389/fneur.2022.845383

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