Article
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
European journal of medical genetics - 1 Jan 2000
Cau Milena, Loi Mario, Melis Maurizio, Congiu Rita, Loi Alberto, Meloni Cristiana, Serrenti Marianna, Addis Maria, Melis Maria Antonietta
Abstract excerpt
Cerebral cavernous malformations (CCMs) are CNS vascular anomalies associated with seizures, headaches and hemorrhagic strokes and represent 10-20% of cerebral lesions. CCM is present in 0.1-0.5 of the population. This disorder most often occurs sporadically but may also be familial. Familial cases are inherited as a dominant trait with incomplete penetrance and are estimated to account for KRIT1 10-40% of the...
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