Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients-Reference-Cited by-同舟云学术

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients

Published:2021-01-19 Issue:3 Volume:99 Page:384-395
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Song Danyu¹,Dai Yi²,Chen Xiaoyu¹,Fu Xiaona¹,Chang Xingzhi¹,Wang Ning³^ORCID,Zhang Cheng⁴,Yan Chuanzhu⁵,Zheng Hong⁶,Wu Liwen⁷,Jiang Li⁸,Hua Ying⁹,Yang Haipo¹,Wang Zhiqiang³^ORCID,Dai Tingjun⁵,Zhu Wenhua¹⁰,Han Chunxi¹¹,Yuan Yun¹²,Kobayashi Kazuhiro¹³,Toda Tatsushi¹⁴,Xiong Hui¹^ORCID

Affiliation:

1. Department of Pediatrics Peking University First Hospital Beijing China

2. Department of Neurology, Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China

3. Department of Neurology and Institute of Neurology First Affiliated Hospital of Fujian Medical University Fuzhou China

4. Department of Neurology First Affiliated Hospital of Sun Yat‐sen University Guangzhou China

5. Department of Neurology, Qilu Hospital Shandong University Jinan China

6. Department of Pediatrics the First Affiliated Hospital of Henan University of Chinese Medicine Zhengzhou China

7. Department of Neurology Hunan Children's Hospital Changsha China

8. Department of Neurology Children's Hospital of Chongqing Medical University Chongqing China

9. Department of Neurology Wuxi Children's Hospital Wuxi China

10. Department of Neurology, Huashan Hospital Fudan University Shanghai China

11. Department of Neurology Shenzhen Children's Hospital Shenzhen China

12. Department of Neurology Peking University First Hospital Beijing China

13. Division of Neurology/Molecular Brain Science Kobe University Graduate School of Medicine Kobe Japan

14. Department of Neurology, Graduate School of Medicine the University of Tokyo Tokyo Japan

Funder

National Basic Research Program of China

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13886

Reference39 articles.

1. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

2. Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy

3. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

4. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

5. DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of -dystroglycan

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy;Annals of Clinical and Translational Neurology;2024-08-30

2. Clinical and molecular genetic analysis further delineates the phenotypic variability of POMT2-related limb girdle muscular dystrophy type R14;2024-07-03

3. Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report;Clinical Case Reports;2024-04

4. Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families;Neurogenetics;2024-02-01

5. Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review;Journal of Musculoskeletal Surgery and Research;2024-01-31