Article

De novo mutation in theNotch3 gene causing CADASIL

2000-03-01

Abstract excerpt

CADASIL, an autosomal dominant arteriopathy responsible for stroke and dementia, is caused by strongly stereotyped mutations in the Notch3 gene. We report a patient with a condition strongly suggestive of CADASIL (migraine, stroke, and white matter abnormalities), except that this patient did not have any first-degree relatives with similar symptoms. This patient carried a heterozygous Arg182Cys mutation in the No...

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Literature Corpus work: 45e5ff73-c81d-5564-866a-9631f689eec0
DOI: 10.1002/1531-8249(200003)47:3<388::aid-ana19>3.0.co;2-q

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