What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene

What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene

We report patients from a Polish family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) who possess a novel heterozygous R110C mutation in exon 3 of the NOTCH3 gene leading to stereotypical cysteine loss. The proband had only seizure attacks...

Full description

Bibliographic Details
Main Authors: Dorota Dziewulska, Dorota Sulejczak, Michalina Wężyk
Format: Article
Language:English
Published: Termedia Publishing House 2017-12-01
Series:Folia Neuropathologica
Subjects:
<i>CADASIL
GOM
microangiopathy
NOTCH3
seizures</i>
Online Access:https://www.termedia.pl/What-factors-determine-phenotype-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-CADASIL-Considerations-in-the-context-of-a-novel-pathogenic-R110C-mutatio,20,31347,1,1.html

Internet

https://www.termedia.pl/What-factors-determine-phenotype-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-CADASIL-Considerations-in-the-context-of-a-novel-pathogenic-R110C-mutatio,20,31347,1,1.html

Similar Items