Article
Comprehensive CCM3 Mutational Analysis in Two Patients with Syndromic Cerebral Cavernous Malformation.
Translational stroke research - 1 Apr 2024
da Fontoura Galvão Gustavo, da Silva Elielson Veloso, Trefilio Luisa Menezes, Alves-Leon Soniza Vieira, Fontes-Dantas Fabrícia Lima, de Souza Jorge Marcondes
Abstract excerpt
Cerebral cavernous malformation (CCM) is a vascular disease that affects the central nervous system, which familial form is due to autosomal dominant mutations in the genes KRIT1(CCM1), MGC4607(CCM2), and PDCD10(CCM3). Patients affected by the PDCD10 mutations usually have the onset of symptoms at an early age and a more aggressive phenotype. The aim of this study is to investigate the molecular mechanism...
Topics
- Humans
- Central Nervous System
- Hemangioma, Cavernous, Central Nervous System
- Mutation
- Phenotype
- Proto-Oncogene Proteins