Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the three loci to date linked to familial CCM dev...

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Bibliographic Details
Main Authors: Concetta Scimone, Luigi Donato, Zoe Katsarou, Sevasti Bostantjopoulou, Rosalia D'Angelo, Antonina Sidoti
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-11-01
Series:Frontiers in Neurology
Subjects:
CCM
splicing variants
CCM2 penetrance
pathogenesis
CCM genotype-phenotype correlation
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2018.00953/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2018.00953/full

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