Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia.

• Tác giả: David Beeson, Claudia Canzonetta, Judith Cossins, Yin Yao Dong, Al Hawkins, Imre Kozma, Patricio Sepulveda
• Ngôn ngữ: eng
• Ký hiệu phân loại: 333.822 Coal
• Thông tin xuất bản: England : Brain communications , 2025
• Bộ sưu tập: NCBI
• ID: 80642

Tóm tắt

Congenital myasthenic syndromes are a group of inherited disorders characterized by defective neuromuscular transmission and fatigable muscle weakness. Causative mutations have been identified in over 30 genes, including