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Miotonía congénita. Incidencia y presentación de una serie de casos
INTRODUCTION. Myotonia congenita is the most common form of genetic myotonia and is caused by mutations in the CLCN1 gene. It can be inherited in an autosomal dominant or recessive manner. We present a series of cases to update its incidence in our environment, to describe its phenotype in relation...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Viguera Editores (Evidenze Group)
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364069/ https://www.ncbi.nlm.nih.gov/pubmed/36782350 http://dx.doi.org/10.33588/rn.7604.2021357 |