[1] Mehler MF.Brain dystrophin,neurogenetics and mental retardation[J].Brain Res Rev,2000,32:277-307.
[2] White SJ,den Dunnen JT.Copy number variation in the genome; the human DMD gene as an example[J].Cytogenet Genome Res,2006,115:240-246.
[3] Prior TW,Bridgeman SJ.Experience and strategy for the molecular testing of Duchenne muscular dystrophy[J].J Mol Diagn,2005,7:317-326.
[4] Schouten JP,McElgunn CJ,Waaijer R,et al.Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification[J].Nucleic Acids Res,2002,30(12):e57-65.
[5] Gaudio D,Yang Y,Boggs BA,et al.Molecular diagnosis of Duchenne/Becker muscular dystrophy:enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization[J].Hum Mutat,2008,29(9):1100-1107.
[6] Bellayou H,Hamzi K,Rafai MA,et al.Duchenne and Becker muscular dystrophy:contribution of a molecular and immunohistochemical analysis in diagnosis in Morocco[J].J Biomed Bootechnol,2009,325210.doi:10.1155/2009/325210.
[7] Takeshima Y,Yagi M,Okizuka Y,et al.Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center[J].J Hum Genet,2010,55:379-388.
[8] Magri F,Del Bo R,D'Angelo MG,et al.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing[J].BMC Med Genet,2011,11:12-37.
[9] Mercier S,Toutain A,Toussaint A,et al.Genetic and clinical specificity of 26 symtomatic carriers for dystrophinopathies at pediatric age[J].European Journal of Human Genetics,2013,2:1-9.
[10] Soltanzadeh P,Friez MJ,Dunn D,et al.Clinical and genetic characterization of manifesting carriers of DMD mutations[J].Neuromuscul Disord,2010,20:499-504.
[11] Zeng F,Ren ZR,Huang SZ,et al.Array MLPA:comprehensive detection of deletions and duplications and its application to DMD patients[J].Hum Mutat,2008,29(1):190-197.
[12] Lee BL,Nam SH,Lee JH,et al.Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea[J].J Korean Med Sci,2012,27(3):274-280.
[13] Flanigan KM,von Niederhausern A,Dunn DM,et al.Rapid direct sequence analysis of the dystrophin gene[J].Am J Hum Genet,2003,72:931-939.
[14] Flanigan KM,Dunn DM,von Niederhausern A,et al.Mutational spectrum of DMD mutations in dystrophinopathy patients:application of modern diagnostic techniques to a large cohort[J].Hum Mutat,2009,30:1657-1666.
[15] Almomani R,van der Stoep N,Bakker E,et al.Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis[J].Neuromuscul Disord,2009,19:383-390.
[16] Ng SB,Buckingh am KJ,Lee C,et al.Exome sequencing identifies the cause of a mendelian disorder[J].Nat Genet,2010,42(1):30-35.
[17] Haack TB,Danhauser K,Haberberger B,et al.Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency[J].Nat Genet,2010,42(12):1131-1134.
[18] Lim BC,Lee S,Shin JY,et al.Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology:comprehensive mutational search in a single platform[J].Med Genet,2011,48:731-736.
[19] 刘敏娟,谢敏,毛君,等.第二代测序技术在假肥大型肌营养不良基因诊断中的应用[J].中华医学遗传学杂志,2012,29(3):249-254.