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...

Descripción completa

Detalles Bibliográficos
Autores principales: Espinosa, Karla G., Geissah, Salma, Groom, Linda, Volpatti, Jonathan, Scott, Ian C., Dirksen, Robert T., Zhao, Mo, Dowling, James J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Research Article
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

Internet

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

Ejemplares similares