Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins-Reference-Cited by-同舟云学术

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Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins

Published:2019-04-15 Issue:3 Volume:39 Page:207-211
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Lu Yanpeng¹^ORCID,Song Xueqin¹,Ji Guang¹,Wu Hongran¹,Li Duan¹,Sun Shuyan¹

Affiliation:

1. Department of Neurology The Second Hospital of Hebei Medical University Hebei China

Publisher

Wiley

Subject

Clinical Neurology,General Medicine,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/neup.12549

Reference12 articles.

1. Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D

2. Homozygous ?-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient

3. Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults

4. Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy

5. Childhood Onset of Limb-Girdle Muscular Dystrophy

Cited by 3 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. The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction;Communications Biology;2022-09-27

2. Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review;Journal of Neuromuscular Diseases;2022-07-01

3. Gene-editing, immunological and iPSCs based therapeutics for muscular dystrophy;European Journal of Pharmacology;2021-12

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