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

• Asıl Yazarlar: Chien-Hua Wang (Yazar), Wen-Chen Liang (Yazar), Yi-Ning Su (Yazar), Wen-Chieh Lee (Yazar), Ching-Chyuan Su (Yazar), Yuh-Jyh Jong (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Elsevier, 2012-12-01T00:00:00Z.
• Konular: article
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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...