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...

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Detalles Bibliográficos
Autores principales: de Leon, Meliza Angelica J., Rosales, Raymond L., Klein, Christine, Westenberger, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
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

Internet

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

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