Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy
Author:
Publisher
BMJ
Subject
Psychiatry and Mental health,Neurology (clinical),Surgery
Cited by 86 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. Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant;Stem Cell Research;2024-10
2. Defining the landscape of TIA1 and SQSTM1 digenic myopathy;Neuromuscular Disorders;2024-09
3. A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity;Journal of Clinical Investigation;2024-05-01
4. Human skeletal myopathy myosin mutations disrupt myosin head sequestration;JCI Insight;2023-11-08
5. Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration;2023-05-16
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