Manifesting Pediatric Carrier of Isolated Dystrophinopathy with Initial Presentation of Myalgia and Persistent HyperCKemia

• Glavni autori: Chien-Hua Wang (Autor), Wen-Chen Liang (Autor), Yi-Ning Su (Autor), Wen-Chieh Lee (Autor), Ching-Chyuan Su (Autor), Yuh-Jyh Jong (Autor)
• Format: Knjiga
• Izdano: Elsevier, 2012-12-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Dystrophinopathy is caused by mutations in the dystrophin gene at Xp21. Although manifesting carriers of dystrophinopathy have been documented in adults, symptomatic dystrophinopathy in female children is rare. We report on a 13-year-old girl with initial presentation of myalgia at age 7 years and a...