Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families

Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese families were studied retrospectively. Results Dy...

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Bibliographic Details
Main Authors: Hui-li ZHANG, Ze LI, Qiu-sheng CHENG, Xi CHEN, Yu-ling ZHU, Ya-qin LI, Meng-long CHEN, Cheng ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2018-07-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Muscular dystrophies
Phenotype
Genes
Mutation
Pedigree
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/1811

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/1811

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