Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation.

Authors

M F Waters
D C Shields
N A Martin
R W Baloh
J C Jen

Document Type

Article

Keywords

Adult, Alternative Splicing, Blood Vessels, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Hemangioma, Cavernous, Central Nervous System, Heterozygote, Humans, KRIT1 Protein, Male, Microtubule-Associated Proteins, Mutation, Neurosurgical Procedures, Paralysis, Paraparesis, Pedigree, Proto-Oncogene Proteins, Spinal Cord, Spinal Cord Neoplasms, Thoracic Vertebrae, Treatment Outcome

Medical Subject Headings

Adult; Alternative Splicing; Blood Vessels; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; Hemangioma, Cavernous, Central Nervous System; Heterozygote; Humans; KRIT1 Protein; Male; Microtubule-Associated Proteins; Mutation; Neurosurgical Procedures; Paralysis; Paraparesis; Pedigree; Proto-Oncogene Proteins; Spinal Cord; Spinal Cord Neoplasms; Thoracic Vertebrae; Treatment Outcome

Publication Date

9-27-2005

Publication Title

Neurology

ISSN

1526-632X

Volume

65

Issue

6

First Page

966

Last Page

967

PubMed ID

16186553

Digital Object Identifier (DOI)

10.1212/01.wnl.0000175976.95737.76

Recommended Citation

Waters, M F; Shields, D C; Martin, N A; Baloh, R W; and Jen, J C, "Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation." (2005). Translational Neuroscience. 1500.
https://scholar.barrowneuro.org/neurobiology/1500