Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
- 9 May 2000
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 54 (9) , 1874-1875
- https://doi.org/10.1212/wnl.54.9.1874
Abstract
The main features of this family have been previously reported.6 In summary, nine subjects presented with white matter abnormalities (WMA) on T2-weighted images; among these, two were asymptomatic and seven were symptomatic. Symptoms included migraine with aura in six patients and progressive dementia in one patient. …Keywords
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