A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis

A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis

Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene. Methods and Results A male patient, 33 years, characterized by symmetric weakness of bilateral distal lower limbs, especially in anterior gro...

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Bibliographic Details
Main Authors: Liang WANG, Ya-qin LI, Hui-li ZHANG, Yu-ling ZHU, Ruo-jie HE, Huan LI, Jin-fu LIN, Cheng ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2018-08-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Muscular diseases
Phenotype
Genes
Mutation
Computational biology
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/1823

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/1823

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