Article
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.
Brain pathology (Zurich, Switzerland) - 1 Mar 2011
D'Angelo Rosalia, Marini Valeria, Rinaldi Carmela, Origone Paola, Dorcaratto Alessandra, Avolio Maria, Goitre Luca, Forni Marco, Capra Valeria, Alafaci Concetta, Mareni Cristina, Garrè Cecilia, Bramanti Placido, Sidoti Antonina, Retta Saverio Francesco, Amato Aldo
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular lesions of the CNS characterized by abnormally enlarged capillary cavities. CCMs can occur as sporadic or familial autosomal dominant form. Familial cases are associated with mutations in CCM1[K-Rev interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes. In this study, a three-gene mutation screening was performed by direct exon sequencing, in a...
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