| Literature DB >> 21514860 |
Abdul Qawee Rani1, Rusdy Ghazali Malueka, Teguh Haryo Sasongko, Hiroyuki Awano, Tomoko Lee, Mariko Yagi, Bin Alwi Zilfalil, A B Razak Salmi, Yasuhiro Takeshima, Z A M H Zabidi-Hussin, Masafumi Matsuo.
Abstract
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.Entities:
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Year: 2011 PMID： 21514860 DOI： 10.1016/j.ymgme.2011.04.002
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797