Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report

Abstract Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in NOTCH3 gene with remarkable phenotypic heterogeneity. Cases of CADASIL associated with homozygous NOTCH3 mutations are...

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Bibliographic Details
Main Authors: Ruojie He, Huan Li, Yiming Sun, Menglong Chen, Liang Wang, Yuling Zhu, Cheng Zhang
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Neurology
Subjects:
CADASIL
NOTCH3 mutation
Homozygous
Phenotypic variation
Online Access:http://link.springer.com/article/10.1186/s12883-020-01660-0

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http://link.springer.com/article/10.1186/s12883-020-01660-0

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