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Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac manifestations have been described. We report a fam...

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Detalles Bibliográficos
Autores principales: Cordenier, Ann, Flamez, Anja, de Ravel, Thomy, Gheldof, Alexander, Pannone, Luigi, De Asmundis, Carlo, Pappaert, Gudrun, Bissay, Véronique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537820/
https://www.ncbi.nlm.nih.gov/pubmed/36212636
http://dx.doi.org/10.3389/fneur.2022.1011956