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

• প্রধান লেখক: Karla G. Espinosa (লেখক), Salma Geissah (লেখক), Linda Groom (লেখক), Jonathan Volpatti (লেখক), Ian C. Scott (লেখক), Robert T. Dirksen (লেখক), Mo Zhao (লেখক), James J. Dowling (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: The Company of Biologists, 2022-05-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...