Document Detail


Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.
MedLine Citation:
PMID:  21514860     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Abdul Qawee Rani; 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
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-4-8
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  -     ISSN:  1096-7206     ISO Abbreviation:  -     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-4-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
Affiliation:
Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.
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