Clinical and gene mutation analysis on Alexander's disease type Ⅱ caused by a novel GFAP mutation
Objective To report the clinical phenotype and genetic characteristics of an Alexander's disease type Ⅱ patient with unusual presentation, so as to extend phenotype and gene mutation spectrum of Alexander's disease type Ⅱ. Methods and Results A 41-year-old male patient suffered from paroxy...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Tianjin Huanhu Hospital
2019-03-01
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Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
Subjects: | |
Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/1928 |