Article
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.
Brain : a journal of neurology - 1 Aug 2012
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
Abstract excerpt
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 have distinctive features. This study involved the analysis of neuroimaging of 13 patients with heterozygous missense...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.