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Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy
Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation–contraction coupling (ECC). Bi-allelic autosomal-recessive mutations in striated muscle enriched protein kinase (SPEG) account for a subset...
Autores principales: | Espinosa, Karla G., Geissah, Salma, Groom, Linda, Volpatti, Jonathan, Scott, Ian C., Dirksen, Robert T., Zhao, Mo, Dowling, James J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118044/ https://www.ncbi.nlm.nih.gov/pubmed/35293586 http://dx.doi.org/10.1242/dmm.049437 |
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