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ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature

BACKGROUND: ACTA2 gene is a specific gene that encodes actin α2. Multisystem smooth muscle dysfunction syndrome (MSMDS) is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene mutations. There have been many reports of cardiac, pulmonary and cerebrovascular...

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Detalles Bibliográficos
Autores principales: Yang, Wen-Xian, Zhang, Hang-Hu, Hu, Jia-Ni, Zhao, Li, Li, Yan-Yun, Shao, Xiao-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8546807/
https://www.ncbi.nlm.nih.gov/pubmed/34734057
http://dx.doi.org/10.12998/wjcc.v9.i29.8789