Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome

Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation occurs through myoblast fusion, mediated by the muscle fusogens Myomaker (MYMK) and Myomixer (MYMX). We describe a human pedigree ha...

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Detalles Bibliográficos
Autores principales: Ramirez-Martinez, Andres, Zhang, Yichi, van den Boogaard, Marie-Jose, McAnally, John R., Rodriguez-Caycedo, Cristina, Chai, Andreas C., Chemello, Francesco, Massink, Maarten P.G., Cuppen, Inge, Elferink, Martin G., van Es, Robert J.J., Janssen, Nard G., Walraven-van Oijen, Linda P.A.M., Liu, Ning, Bassel-Duby, Rhonda, van Jaarsveld, Richard H., Olson, Eric N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9151691/
https://www.ncbi.nlm.nih.gov/pubmed/35642635
http://dx.doi.org/10.1172/JCI159002

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