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

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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Bibliographic Details
Main Authors: Serena Pagliarani, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Neurology
Subjects:
myotonia
paramyotonia
channelopathies
CLCN1
SCN4A
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.845383/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.845383/full

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