Article
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
Human molecular genetics - 15 Jan 2013
Lemmens Robin, Maugeri Alessandra, Niessen Hans W M, Goris An, Tousseyn Thomas, Demaerel Philippe, Corveleyn Anniek, Robberecht Wim, van der Knaap Marjo S, Thijs Vincent N, Zwijnenburg Petra J G
Abstract excerpt
Mutations in COL4A1 have been identified in families with hereditary small vessel disease of the brain presumably due to a dominant-negative mechanism. Here, we report on two novel mutations in COL4A1 in two families with porencephaly, intracerebral hemorrhage and severe white matter disease caused by haploinsufficiency. Two families with various clinical presentations of cerebral microangiopathy and autosomal...
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