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A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report
BACKGROUND: Myoclonus-dystonia is a rare movement disorder with an autosomal dominant inheritance pattern characterized by a combination of myoclonic jerks and dystonia that may have psychiatric manifestations. Our aim is to present neurologic and psychiatric phenotypic characteristics in the first...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8729002/ https://www.ncbi.nlm.nih.gov/pubmed/34986800 http://dx.doi.org/10.1186/s12883-021-02530-z |