A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link?

RATIONALE: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear. PATIENT CONCERNS:...

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Detalles Bibliográficos
Autores principales: Portaro, Simona, Cacciola, Alberto, Naro, Antonino, Milardi, Demetrio, Morabito, Rosa, Corallo, Francesco, Marino, Silvia, Bramanti, Alessia, Mazzon, Emanuela, Calabrò, Rocco Salvatore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392771/
https://www.ncbi.nlm.nih.gov/pubmed/29851785
http://dx.doi.org/10.1097/MD.0000000000010785

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392771/
https://www.ncbi.nlm.nih.gov/pubmed/29851785
http://dx.doi.org/10.1097/MD.0000000000010785

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