1[1]Monaco AP,Bertelson CJ,Liechti-Gallati S,et al.An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.Genomics,1988,2:90-95.
2[2]Wilton SD,Lloyd F,Carville K,et al.Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotide.Neuromuscul Disord,1999,9:330-338.
4[4]Aartsma-Rus A,Janson AA,Kaman WE,et al.Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.Hum Mol Genet,2003,12:907-914.
5[5]Takeshima Y,Yagi M,Wada H,et al.Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy.Pediatr Res,2006,59:690-694.
6[6]Watchko J,O'Day T,Wang B,et al.Adeno-associated virus vectormediated minidystrophin gene therapy improves dystrophic muscle contractile function in mdx mice.Hum Gene Ther,2002,13:1451-1460.
7[7]Kimura S,Ito K,Miyagi T,et al.A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy.Brain Dev,2005,27:400-405.
8[8]Barton-Davis ER,Cordier L,Shoturma DL,et al.Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice.J Clin Invest,1999,104:375-381.
9[9]Hamed SA.Drug evaluation:PTC-124:a potential treatment of cystic fibrosis and Duchenne muscular dystrophy.IDrugs,2006,9:783-789.
10[10]Wagner KR,Hamed S,Hadley DW,et al.Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations.Ann Neurol,2001,49:706-711.
4Stephen Abbs,Sylvie Tuffery-Giraud,Egbert Bakker,Alessandra Ferlini,Thomas Sejersen,Clemens R. Mueller.Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies[J]. Neuromuscular Disorders . 2010 (6)
5C. Rosenberg,L. Navajas,D.F. Vagenas,E. Bakker,M. Vainzof,M.R. Passos-Bueno,R.I. Takata,G.J.B. Van Ommen,M. Zatz,J.T. Den Dunnen.Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization[J]. Neuromuscular Disorders . 1998 (7)
6Kondo K,Tsubaki T.Abortion programme in Duchenne muscular dystrophy in Japan. The Lancet . 1973
7Schouten JP,McElgunn CJ,Waaijer R,et al.Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Research . 2002
8Bennett Richard,den Dunnen Johan,O’Brien Kristine,Darras Basil,Kunkel Louis.Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genetics . 2001
9Zimowski J,Massalska D,Holding M,et al.MLPA based detection of mutations in the dystrophin gene of 180Polish families with Duchenne/Becker muscular dystrophy. Neurologia I Neurochirurgia Polska . 2014
10Uwineza A,Hitayezu J,Murorunkwere S,et al.Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients. Journal of Tropical Pediatrics . 2014
