【摘 要】
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Objective Analyze the clinical characteristics, the DMD gene variation and the pattern of X chromosome inactivation (XCI), in order to research the possible onset mechanism.Methods A female patient ag
【机 构】
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Department of Neurology, Children's Hospital of Fudan University
【出 处】
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The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie
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Objective Analyze the clinical characteristics, the DMD gene variation and the pattern of X chromosome inactivation (XCI), in order to research the possible onset mechanism.Methods A female patient aged 14 years with typical DMD/BMD symptoms and signs received the routine examinations of serum CK, electrocardiogram, echocardiography, electromyography,muscle biopsy, chromosome detection and DMD gene test with MLPA.Combining of denaturing high-performance liquid chromatography (DHPLC) and single nucleotide polymorphisms(SNPs),we tested the methylation of Hpa Ⅱ sites in androgen-receptor gene to analyze the pattern of XCI.
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