Different Clinical Phenotypes in Monozygotic CADASIL Twins With a Novel NOTCH3 Mutation
Author(s) -
Kati Mykkänen,
Maija Junna,
Kaarina Amberla,
Lena Bronge,
Helena Kääriäinen,
Minna Pöyhönen,
Hannu Kalimo,
Matti Viitanen
Publication year - 2009
Publication title -
stroke
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.397
H-Index - 319
eISSN - 1524-4628
pISSN - 0039-2499
DOI - 10.1161/strokeaha.108.528661
Subject(s) - cadasil , medicine , mutation , phenotype , genetics , leukoencephalopathy , gene , disease , biology
CADASIL is a hereditary arteriopathy causing recurrent strokes and cognitive decline. Because monozygotic twins have identical genetic background, differences in their environment and lifestyle could reveal factors that may influence CADASIL patients' clinical course, which is highly variable even within the same family.
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