Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion.

• Tác giả: Zachary Coulson, James J Dowling, Henk Granzier, Zaynab Hourani, Esmat Karimi, Justin Kolb, Coen Ottenheijm, Nesrin Sabha
• Ngôn ngữ: eng
• Ký hiệu phân loại: 658.32259 Personnel management (Human resource management)
• Thông tin xuất bản: England : Skeletal muscle , 2025
• Bộ sưu tập: NCBI
• ID: 724233

Tóm tắt

Biallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in NEB. Previously, a mouse model of Neb