Congenital tremor and myopathy secondary to novel MYBPC1 variant-Reference-Cited by-同舟云学术

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Congenital tremor and myopathy secondary to novel MYBPC1 variant

Published:2024-02 Issue: Volume:457 Page:122864
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Leduc-Pessah Heather,Smith Ian C.,Kernohan Kristin D.,Sampaio Marcos,Melkus Gerd,Strasser Lauren,Chisholm Caitlin,Huang Lijia,Hanes Ilana,Tran My-An,Venkateswaran Sunita,Muir Katherine,Charlesworth Laurel,Warman-Chardon Jodi

Publisher

Elsevier BV

Reference30 articles.

1. Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C);Weber;Eur. J. Biochem.,1993

2. Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow;Ackermann;FASEB J.,2013

3. Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor;Hauserman;JCI Insight,2021

4. Fast and slow skeletal myosin binding protein-C and aging;Perazza;GeroScience,2022

5. Regulation of myofilament force and loaded shortening by skeletal myosin binding protein C;Robinett;J. Gen. Physiol.,2019

Cited by 1 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. Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations;Gene;2024-06

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