A novel splicing mutation identified in a DMD patient: a case report

• 主要な著者: Yuting Wen (著者), Luo Yang (著者), Gan Shen (著者), Siyu Dai (著者), Jing Wang (著者), Xiang Wang (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2023-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

BackgroundDuchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting. Mutations in the dystrophy gene (DMD) are the main cause of Duchenne muscular dystrophy.Case presentationThis study aims to determine novel mut...