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Nueva mutación en el gen KMT2B como causa de distonía generalizada de inicio temprano: reporte de caso
INTRODUCTION: KMT2B-related dystonia is a recently described subtype of focal-onset dystonia in the lower limbs, evolving into a generalized form with cervical, oropharyngeal involvement, dysarthria, swallowing disorder and intellectual disability. CLINICAL CASE: We describe the case of a 10-year-ol...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Instituto Nacional de Salud
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528928/ https://www.ncbi.nlm.nih.gov/pubmed/36122281 http://dx.doi.org/10.7705/biomedica.6296 |