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Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

BACKGROUND: Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen disease) and recessive form (Becker disease) and both are caused by pathogenic vari...

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Detalles Bibliográficos
Autores principales:	Sparber, Peter, Sharova, Margarita, Filatova, Alexandra, Shchagina, Olga, Ivanova, Evgeniya, Dadali, Elena, Skoblov, Mikhail
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579786/ https://www.ncbi.nlm.nih.gov/pubmed/33092578 http://dx.doi.org/10.1186/s12881-020-01128-5

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