Have a personal or library account? Click to login
Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing Cover

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing

Open Access
|Feb 2010

References

  1. DMD Genetic Therapy Group, Leiden muscular dystrophy pages. 1997; retrieved from http://www.dmd.nl
  2. 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; 16(23): 11141-11156.10.1093/nar/16.23.11141
  3. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86(1): 45-48.10.1007/BF00205170
  4. Danieli GA, Mioni F, Mueller CR, Vitiello L, Mostacciuolo ML, Grimm T. Patterns of deletions of the dystrophin gene in different European populations. Hum Genet 1993; 91(4): 342-346.
  5. Todorova A, Bronzova J, Miorin M, Rosa M, Kremensky I, Danieli GA. Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron. Am J Med Genet 1996; 65(1): 40-43.10.1002/(SICI)1096-8628(19961002)65:1<;40::AID-AJMG6>3.0.CO;2-1
  6. MRC Holland, Amsterdam ( http://www.mlpa.com
  7. Treat-NMD Neuromuscular Network, advancing diagnosis, care and treatment for people with neuromuscular diseases around the world ( http://www.treat-nmd.eu
  8. Todorova A, Todorov T, Georgieva B, Lukova M, Guergueltcheva, V, Kremensky I, Mitev V. MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients. Neuromuscul Disord 2008; 18(8): 667-670.10.1016/j.nmd.2008.06.369
  9. Greener MJ, Sewry CA, Muntoni F, Roberts RG. The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss. Eur J Hum Genet 2002; 10(7): 413-420.10.1038/sj.ejhg.5200822
  10. Bulgarian Neuromuscular Dystrophy Society ( http://www.nmd-bg.com
Language: English
Page range: 3 - 9
Published on: Feb 19, 2010
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2010 A Todorova, V Guergueltcheva, J Genova, V Mihaylova, T Todorov, T Tchamova, B Georgieva, I Kremensky, I Tournev, V Mitev, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 12 (2009): Issue 2 (December 2009)