Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies

Dystrophinopathies are a group of neuromuscular disorders resulting from mutations in DMD, including Duchenne muscular dystrophy (DMD), intermediate muscular dystrophy (IMD), and Becker muscular dystrophy (BMD). Herein, we present the characteristics of small mutations in Chinese patients with dystr...

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Bibliographic Details
Main Authors: Liang Wang, Min Xu, Huan Li, Ruojie He, Jinfu Lin, Cheng Zhang, Yuling Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Genetics
Subjects:
dystrophinopathies
small mutation
mutation spectrum
genotype–phenotype correlation
exon skipping therapy
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00114/full

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