Clinical phenotype and gene mutation analysis on one case of familial amyotrophic lateral sclerosis complicated with gastrocnemius edema caused by SOD1A4V

Clinical phenotype and gene mutation analysis on one case of familial amyotrophic lateral sclerosis complicated with gastrocnemius edema caused by SOD1A4V

Objective To retrospectively analyze the clinical phenotype and gene mutation of one case of familial amyotrophic lateral sclerosis (fALS) caused by SOD1A4V. Methods and Results The patient was 34-year-old male, presenting with lower motor neuron damage of limbs, dyspnea and bilateral gastrocnemius...

Full description

Bibliographic Details
Main Authors: Miao-miao HOU, Xiao-wei MAO, Wei LIU, Yin-feng DING, Wen-hua ZHU, Xiao-jun HOU
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2019-06-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Amyotrophic lateral sclerosis
Muscle, skeletal
Superoxide dismutase-1
Genes
Mutation
Pedigree
Online Access:http://cjcnn.org/index.php/cjcnn/article/view/1970

Internet

http://cjcnn.org/index.php/cjcnn/article/view/1970

Similar Items