A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo

Over 20 mutations in β-cardiac myosin heavy chain (β-MHC), expressed in cardiac and slow muscle fibers, cause Laing early-onset distal myopathy (MPD-1), a skeletal muscle myopathy. Most of these mutations are in the coiled-coil tail and commonly involve a mutation to a proline or a single-residue de...

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Detalles Bibliográficos
Autores principales: Parker, Francine, Batchelor, Matthew, Wolny, Marcin, Hughes, Ruth, Knight, Peter J., Peckham, Michelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958240/
https://www.ncbi.nlm.nih.gov/pubmed/29660325
http://dx.doi.org/10.1016/j.jmb.2018.04.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958240/
https://www.ncbi.nlm.nih.gov/pubmed/29660325
http://dx.doi.org/10.1016/j.jmb.2018.04.006

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