A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is associated with an early onset severe phenotype due to global smooth muscle dysfunction. Cerebrovascular disease associated with ACTA2 mutations has been likened to moyamoya disease, but appears to h...

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Main Authors: Munot, Pinki, Saunders, Dawn E., Milewicz, Dianna M., Regalado, Ellen S., Ostergaard, John R., Braun, Kees P., Kerr, Timothy, Lichtenbelt, Klaske D., Philip, Sunny, Rittey, Christopher, Jacques, Thomas S., Cox, Timothy C., Ganesan, Vijeya
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2012
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3407424/
https://ncbi.nlm.nih.gov/pubmed/22831780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws172
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