Correlation analysis between genotype and phenotype of patients with facioscapulohumeral muscular dystrophy type 1

Correlation analysis between genotype and phenotype of patients with facioscapulohumeral muscular dystrophy type 1

Objective To investigate the clinical phenotype and genotype of facioscapulohumeral muscular dystrophy type 1 (FSHD1) and the correlation between the two. Methods The clinical data, genotype and laboratory examination of 25 patients with FSHD1 diagnosed by fluorescence in situ hybridization (FISH) f...

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Bibliographic Details
Main Authors: Huan LI, Qiu CHEN, Jin-fu LIN, Zi-yu LIAO, Liang WANG, Jing LI, Yu-ling ZHU, Cheng ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2019-05-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Muscular dystrophy, facioscapulohumeral
Genotype
Phenotype
DNA copy number variations
Online Access:http://cjcnn.org/index.php/cjcnn/article/view/1954

Internet

http://cjcnn.org/index.php/cjcnn/article/view/1954

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