A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: A first study

Muntoni, 2003, Lancet Neurol, Dystrophin and mutations: One gene, several proteins, multiple phenotypes, 731

Emery, 1991, Neuromuscul Disord, Population frequencies of inherited neuromuscular diseases-a world survey, 19

Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-28.

Werneck, 2001, Am J Med Genet, Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients, 115

Chamberlain, 1988, Nucleic Acids Res, Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification, 11141

Beggs, 1990, Hum Genet, Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction, 45

Den, 1989, Am J Hum Genet, Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications, 835

Singh, 2006, Indian J Clin Biochem, Multiplex PCR for rapid detection of exonal deletions in patients of Duchenne muscular dystrophy, 147

Hu, 1990, Am J Hum Genet, Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotype genotype correlation, 682

Schouten, 2002, Nucleic Acids Res, Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification, e57

Lalic, 2005, Eur J Hum Genet, Deletion and duplication screening in the DMD gene using MLPA, 1231

Lee, 2012, J Korean Med Sci, Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea, 274

Hwa, 2007, J Formo Med Assoc, Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects, 339

White, 2006, Hum Mutat, Duplications in the DMD gene, 938

Wang, 2008, Behav Brain Funct, Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations, 20

Emery AE, Muntoni F. Duchenne muscular dystrophy. 3 rd ed. Oxford: Oxford University Press; 2003.

Mortier W, Grimm T, Zierz S. Progressive muskeldystrophien. In: Hopf HC, Deuschl G, Diener HC, et al. editors. Neurologie in Praxis und Klinik; Band II. 3., vollständig überarbeitete Auflage. Stuttgart: Thieme; 1999. p. 515-58.

Laing, 2011, Clin Biochem Rev, Molecular diagnosis of Duchenne muscular dystrophy: Past, present and future in relation to implementing therapies, 129

del, 2008, Hum Mutat, Molecular diagnosis of Duchenne/Becker muscular dystrophy: Enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization, 1100

Hegde, 2008, Hum Mutat, Microarray-based mutation detection in the dystrophin gene, 1091