Duchenne and Becker muscular dystrophy: A molecular and immunohistochemical approach

Arquivos de Neuro-Psiquiatria

Volumn 65, Issue 1, 2007, Pages 73-76

  Freund, Aline Andrade ^a   Scola, Rosana Herminia ^a   Arndt, Raquel Cristina ^a   Lorenzoni, Paulo José ^a   Kay, Claudia Kamoy ^a   Werneck, Lineu Cesar ^a  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

Becker muscular dystrophy; Deletions; Duchenne muscular dystrophy; Exons; Immunohistochemistry; PCR

Indexed keywords

DYSTROPHIN; SARCOGLYCAN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CONTROLLED STUDY; DNA DETERMINATION; DUCHENNE MUSCULAR DYSTROPHY; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; POLYMERASE CHAIN REACTION; SARCOLEMMA; SYMPTOMATOLOGY; X CHROMOSOME LINKED DISORDER;

EID: 34147184307     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2007000100016     Document Type: Article

References (28)

1. Hoffman EP, Brown RH, Kunkel LM. Dystrophin the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-928.
2. Worton R. Muscular dystrophy: disease of the distrophin-glicoprotein complex. Science 1995;270:755-756.
3. den Dunnen JT, Grootscholter PM, Bakker E, et al. Topography of the Duchenne muscular distrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 1989;45:835-847.
4. Tennyson CN, Klamut HJ, Worton RG. The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet 1995;9:184-190.
5. Davidson MD, Critchley DR. α-Actins and the DMD protein contain spectrin-like repeats. Cell 1988;52:159-160.
6. Arahata K, Ishiura S, Ishiguro T, et al. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 1988;333:861-863.
7. Bonilla E, Samitt CE, Miranda AF, et al. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 1988;54:447-452.
8. Watkins SC, Hoffman EP, Slayer HS Kunkel LM. Immunoelectron microscopic localization of distrophin in myofibres. Nature 1988;333:863-866.
9. Koening M, Hoffman EP, Bertelson CJ, Monaco AP, Feenrer C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminar genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517.
10. Forrest SM, Cross GS, Speer A, Gardner-Medwin D, Burn J, Davies KE. Preferential deletions of exons in Duchenne and Becker muscular dystrophies. Genomics 1988;2:109-114.
11. Hoffman EP, Hudecki MS, Rosenberg PA, Pollina CM, Kunkel LM. Cell and fiber type distribution of dystrophin. Neuron 1988;1:411-420.
12. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-95.
13. Hu XY, Burghes AH, Ray PN, Thompson MW, Murphy EG, Worton, RG. Partial gene duplication in Duchenne muscular dystrophies. J Med Genet 1988;25:369-376.
14. Beggs AH, Koening M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-48.
15. Chelly Y, Kaplan JC, Maire P, Gautron S, Kahn A. Transcription of the dystrophin gene in human muscle and-non-muscle tissues. Nature 1988;333:858-860.
16. Sambrook J, Fritsch EF, Maniats T. Molecular Cloning. 2.Ed. New York: Cold Spring Harbor Laboratory Press, 1989;2:16-9.19.
17. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 6:11141-11156.
18. Abbs S, Yau SC, Clark S, Mathew CG, Bobrow MA. Convenient multiplex PCR system for the detection of dystrophin deletions: a comparative analysis with cDNA hybridization shows mistypings by both methods. J Mrd Genet 1991;28:304-311.
19. Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991;217.
20. Dubowitz V. Muscle biopsy: a practical approach. 2.Ed. London: Baillière Tindall, 1985.
21. Werneck LC, Bonilla E. Distrofina na diferenciação das distrofias de Duchenne e Becker. Arq Neuropsiquiatr 1990;48:454-464.
22. Werneck LC, Ferraz LE, Scola RH. Diferenciação precoce entre distrofia muscular de Duchenne e de Becker: estudo clínico, laboratorial, eletrofisiológico, histoquímico e imuno-histoquímico de 138 casos. Arq Neuropsiquiatr 1992;50:468-477.
23. Comerlato EA, Scola RH, Werneck LC. Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach. Arq Neuropsiquiatr 2005;63:235-245.
24. Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskwey CT. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 1989;39:465-474.
25. Coral-Vazquez R, Arenas D, Cisneros B, et al. Pattern of deletions of the dystrophin gene in Mecxican Duchenne/Becker muscular dystrophy patients: the use of new designed primers for the analysis of the major deletion "hot spot" region. Am J Med Genet 1997;70:240-246.
26. Sbit A, El Kerch F, Sefiani A. Analysis of dystrophin gene deletions by multiplex PCR in Maroccan patients. J Biomed Biotechnol 2002;2:158-160.
27. Werneck LC, Scola RH, Maegawa GH, Werneck MM. Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazillian Duchenne and Becker muscular dystrophy patients. Am J Med Genet 2001;103:115-120.
28. Joncourt F, Neuhaus B, Jostarndt-Foegen K, et al. Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum Mutat 2004:23:385-391.