Genetic analysis of 1051 Chinese families with Duchenne/Becker muscular dystrophy
X Kong, X Zhong, L Liu, S Cui, Y Yang, L Kong - BMC medical genetics, 2019 - Springer
Abstract Background Duchenne Muscular Dystrophy (DMD) is the most common muscle
disease in children, and there are no effective therapies for DMD or Becker Muscular …
disease in children, and there are no effective therapies for DMD or Becker Muscular …
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy
Y Wang, Y Yang, J Liu, XC Chen, X Liu… - Molecular genetics and …, 2014 - Springer
Duchenne/Becker muscular dystrophies are the most frequent inherited neuromuscular
diseases caused by mutations of the dystrophin gene. However, approximately 30% of …
diseases caused by mutations of the dystrophin gene. However, approximately 30% of …
Duchenne muscular dystrophy in Saudi Arabia: a review of the current literature
H Aldharee - Frontiers in Neurology, 2024 - frontiersin.org
In the past three decades, significant improvements have occurred in the study of Duchenne
muscular dystrophy (DMD). DMD is a rare, severe neuromuscular disease that causes death …
muscular dystrophy (DMD). DMD is a rare, severe neuromuscular disease that causes death …
Mapping the diverse genetic disorders and rare diseases among the Syrian population: implications on refugee health and health services in host countries
L Hamad, K Kreidieh, MB Hamdan, G Nakouzi… - Journal of Immigrant and …, 2020 - Springer
The aim of this systematic review is to provide physicians and researchers with a
comprehensive list of reported genetic disorders in patients of Syrian origin—those who …
comprehensive list of reported genetic disorders in patients of Syrian origin—those who …
Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community
NA Elhawary, EH Jiffri, S Jambi, AH Mufti, A Dannoun… - Human genomics, 2018 - Springer
Abstract Background In individuals with Duchenne muscular dystrophy (DMD), exon
skipping treatment to restore a wild-type phenotype or correct the frame shift of the mRNA …
skipping treatment to restore a wild-type phenotype or correct the frame shift of the mRNA …
Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report
Y Wang, Y Chen, SM Wang, X Liu, YN Gu… - BMC Medical Genetics, 2020 - Springer
Abstracts Background Duchenne muscular dystrophies (DMDs) are X-linked recessive
neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise …
neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise …
MLPA application in clinical diagnosis of DMD/BMD in Shanghai
X Ji, J Zhang, Y Xu, F Long, W Sun… - Journal of Clinical …, 2015 - Wiley Online Library
Background Duchenne and Becker muscular dystrophy (DMD/BMD) are X‐linked recessive
disorders caused by mutation in dystrophin gene. We reported 3‐year clinic experience from …
disorders caused by mutation in dystrophin gene. We reported 3‐year clinic experience from …
DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years
X Zhong, S Cui, L Liu, Y Yang, X Kong - BMC Medical Genomics, 2021 - Springer
Objective DMD/BMD prenatal diagnosis for 931 foetuses. Background DMD is the most
common fatal X-linked recessive muscular disease. There is no effective clinical treatment …
common fatal X-linked recessive muscular disease. There is no effective clinical treatment …
The first comprehensive cohort of the Duchenne muscular dystrophy in Iranian population: mutation spectrum of 314 patients and identifying two novel nonsense …
G Zamani, A Hosseini Bereshneh… - Journal of Molecular …, 2020 - Springer
Mutations in the dystrophin gene could cause Duchenne muscular dystrophy (DMD), which
is the most common muscular disorder in pediatrics. Considering the growing evidence on …
is the most common muscular disorder in pediatrics. Considering the growing evidence on …
Distribution of dystrophin gene deletions in a Chinese population
Y Li, Z Liu, S OuYang, Y Zhu… - Journal of International …, 2016 - journals.sagepub.com
Objective To describe the deletion patterns and distribution characteristics of the dystrophin
gene in a Chinese population of patients with Duchenne muscular dystrophy (DMD) or …
gene in a Chinese population of patients with Duchenne muscular dystrophy (DMD) or …