Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation.
Waters
M F
MF
Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. mwaters@mednet.ucla.edu
Shields
D C
DC
Martin
N A
NA
Baloh
R W
RW
Jen
J C
JC
D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D001808:Blood Vessels / Q000473:pathology* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D006579:Heterozygote; D006801:Humans; D000075927:KRIT1 Protein; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D019635:Neurosurgical Procedures; D010243:Paralysis / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D020335:Paraparesis / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013116:Spinal Cord / Q000098:blood supply / Q000473:pathology* / Q000503:physiopathology; D013120:Spinal Cord Neoplasms / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D013904:Thoracic Vertebrae; D016896:Treatment Outcome
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins