Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage

Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage

Objective To explore the clinical manifestations, laboratory examination, imaging, neurophysiological, genetic test and family data of 2 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) during the preclinical stage, and to provide clinical data for the early diagnosis of LGMD2A. Methods...

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Bibliographic Details
Main Authors: Huan LI, Yu-ling ZHU, Jing LI, Liang WANG, Ruo-jie HE, Jin-fu LIN, Cheng ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2018-07-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Muscular dystrophies, limb⁃girdle
Phenotype
Genes
Mutation
Pedigree
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/1810

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/1810

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