A Chinese family with fragile X syndrome and atypical Becker muscular dystrophy

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户:weilijay
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  Background: The human X chromosome carries regions prone to genomic instability:the Xq27.3 unstable region, containing the (CGG) n repeat expansion in the FMR1 gene is associated with fragile X syndrome;and rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD).
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