A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency-Reference-Cited by-同舟云学术

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A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency

Published:2018-07 Issue: Volume:53 Page:229-231
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Martinez-Thompson Jennifer M.,Moore Steven A.,Liewluck Teerin

Funder

the Iowa Wellstone Muscular Dystrophy Cooperative Research Center

Publisher

Elsevier BV

Subject

Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery

Reference11 articles.

1. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: the yield and the pitfalls;Fanin;Muscle Nerve,2015

2. An eccentric calpain, CAPN3/p94/calpain-3;Ono;Biochimie,2016

3. Natural history of LGMD2A for delineating outcome measures in clinical trials;Richard;Ann Clin Transl Neurol,2016

4. Crystal structure of calpain-3 penta-EF-hand (PEF) domain- a homodimerized PEF family member with calcium bound at the fifth EF-hand;Partha;FEBS J,2014

5. Pathogenicity of some limb girdle muscular dystrophy mutations can results from reduced anchorage to myofibrils and altered stability of calpain 3;Ermolova;Hum Mol Genet,2011

Cited by 11 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. Loss of Calpain 3 dysregulates store‐operated calcium entry and its exercise response in mice;The FASEB Journal;2024-07-19

2. Loss of calpain 3 dysregulates store-operated calcium entry and its exercise response in mice;2024-01-15

3. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12

4. Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease;Frontiers in Genetics;2023-10-13

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

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