First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

BACKGROUND: Becker’s type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is caused by mutations in the CLCN1 gene, which encodes for a chloride channel mainly...

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Detalles Bibliográficos
Autores principales: Olave-Rodriguez, Jorge Andres, Bonilla-Escobar, Francisco Javier, Candelo, Estephania, Rodriguez-Rojas, Lisa Ximena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8687676/
https://www.ncbi.nlm.nih.gov/pubmed/34938096
http://dx.doi.org/10.2147/TACG.S323559

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8687676/
https://www.ncbi.nlm.nih.gov/pubmed/34938096
http://dx.doi.org/10.2147/TACG.S323559

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