Clinical symptoms and molecular biology research in a family with oculopharyngeal muscular dystrophy

Clinical symptoms and molecular biology research in a family with oculopharyngeal muscular dystrophy

Objective To investigate the clinical symptoms and molecular biological characteristics in a family with oculopharyngeal muscular dystrophy (OPMD). Methods Clinical data of the family members were collected. Genomic DNA were isolated from peripheral blood of 6 family members including the probands f...

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Bibliographic Details
Main Authors: HUANG Kai, LI Wen⁃wu, LIU Hong⁃xian, SUN Hao, LI Zhi⁃hong, CHU Jia⁃you, YANG Zhao⁃qing
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2021-06-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
muscular dystrophy
oculopharyngeal
polynucleotide adenylyltransferase
genes
mutation
pedigree
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/2343

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/2343

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