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

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...

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Main Authors: Chien-Hua Wang, Wen-Chen Liang, Yi-Ning Su, Wen-Chieh Lee, Ching-Chyuan Su, Yuh-Jyh Jong
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012-12-01
Colecção:Pediatrics and Neonatology
Assuntos:
Duchenne muscular dystrophy
dystrophin gene
dystrophinopathy
manifesting carriers
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S1875957212001106
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