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Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor
Myosin binding protein-C slow (sMyBP-C) comprises a subfamily of cytoskeletal proteins encoded by MYBPC1 that is expressed in skeletal muscles where it contributes to myosin thick filament stabilization and actomyosin cross-bridge regulation. Recently, our group described the causal association of d...
Autores principales: | Geist Hauserman, Janelle, Stavusis, Janis, Joca, Humberto C., Robinett, Joel C., Hanft, Laurin, Vandermeulen, Jack, Zhao, Runchen, Stains, Joseph P., Konstantopoulos, Konstantinos, McDonald, Kerry S., Ward, Christopher, Kontrogianni-Konstantopoulos, Aikaterini |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525646/ https://www.ncbi.nlm.nih.gov/pubmed/34437302 http://dx.doi.org/10.1172/jci.insight.147612 |
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