Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation

Abstract

Additional Supporting Information may be found in the online version of this article. Fig. S1. Proband magnetic resonance imaging (MRI) and computed tomography (CT) scans of brain and spinal cord at symptoms onset. (a) CT scan showing the bleeding pontine cavernoma. (b and c) MRI shows a large brain stem (pontine) cavernoma (T1 weighted; b, sagittal; c, coronal). (d and g) MRI reveals also multiple supratentorial (d and e) and infratentorial (f and g) angiomatous lesions (d, T2 axial; e, g, gradient echo axial; f, T1 axial). (h) Angiomatous lesion in cervical spinal cord (sagittal T1 MRI). Please note: Wiley–Blackwell are not responsible for the content or functionality of any supporting materials supplied by the authors. Any queries (other than missing material) should be directed to the corresponding author for the article. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.