Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations

European Neurology

Volumn 61, Issue 3, 2009, Pages 154-158

  Kuhn, Jens ^b   Brümmendorf, Tim H ^a   Brassat, Ute ^a   Lehnhardt, Fritz G ^b   Chung, Boi Dinh ^b   Harnier, Simon ^c   Bewermeyer, Heiko ^c   Harzheim, Andreas ^c   Assheuer, Josef ^d   Netzer, Christian ^b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c Cologne City Hospitals ^*  (Germany)

^d Institute for Magnetic Resonance Imaging   (Germany)

Author keywords

Anticipation; CCM; Cerebral cavernous malformations; KRIT1; Spinal cord

Indexed keywords

ADULT; AGED; ARTICLE; BRAIN HEMORRHAGE; CEREBRAL CAVERNOUS MALFORMATION; CEREBROVASCULAR MALFORMATION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FACIAL NERVE PARALYSIS; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE; GENETIC SUSCEPTIBILITY; HEMIPARESIS; HUMAN; KRIT1 GENE; ONSET AGE; PRIORITY JOURNAL; SPINAL CAVERNOUS MALFORMATION;

ADULT; AGED; AGING; ANTICIPATION, GENETIC; BRAIN; CEREBROVASCULAR DISORDERS; DNA MUTATIONAL ANALYSIS; FAMILY; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; GRANULOCYTES; HUMANS; LYMPHOCYTES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SPINAL CORD; SPINAL CORD VASCULAR DISEASES; TELOMERE;

EID: 57649132133     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000186506     Document Type: Article

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