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  1. Rani AQ, Malueka RG, Sasongko TH, Awano H, Lee T, Yagi M, et al.
    Mol Genet Metab, 2011 Jul;103(3):303-4.
    PMID: 21514860 DOI: 10.1016/j.ymgme.2011.04.002
    In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were identified within exon 8. The proband's mother carried both mutations on one allele. Multiple mutations may explain the occasional discrepancies between genotype and phenotype in dystrophinopathy.
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