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

Autor: Timothy C. Cox, Klaske D. Lichtenbelt, Vijeya Ganesan, Thomas S. Jacques, Pinki Munot, Dianna M. Milewicz, Ellen S. Regalado, Dawn E. Saunders, Kees P.J. Braun, Timothy Kerr, Sunny Philip, John R. Østergaard, Christopher D. Rittey

Publikováno v: Munot, P, Saunders, D E, Milewicz, D M, Regalado, E S, Østergaard, J R, Braun, K P, Kerr, T, Lichtenbelt, K D, Philip, S, Rittey, C, Jacques, T S, Cox, T C & Ganesan, V 2012, ' A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations ', Brain, vol. 135, no. Pt 8, pp. 2506-14 . https://doi.org/10.1093/brain/aws172

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

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https://pure.au.dk/portal/da/publications/a-novel-distinctive-cerebrovascular-phenotype-is-associated-with-heterozygous-arg179-acta2-mutations(d843ee30-ad89-4c27-986b-576ee7401bbe).html