Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy

• Main Authors: Karla G. Espinosa (Author), Salma Geissah (Author), Linda Groom (Author), Jonathan Volpatti (Author), Ian C. Scott (Author), Robert T. Dirksen (Author), Mo Zhao (Author), James J. Dowling (Author)
• Format: Book
• Published: The Company of Biologists, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...