Article
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.
Journal of molecular neuroscience : MN - 1 Nov 2015
Scimone Concetta, Bramanti Placido, Ruggeri Alessia, Katsarou Zoe, Donato Luigi, Sidoti Antonina, D'Angelo Rosalia
Abstract excerpt
Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the...
Topics
- Amino Acid Motifs
- Amino Acid Substitution
- Apoptosis Regulatory Proteins
- Carrier Proteins
- Conserved Sequence
- Gait Disorders, Neurologic
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Magnetic Resonance Imaging