MOLECULAR DIAGNOSTICS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY PATIENTS BY MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION ANALYSIS AND DIRECT SEQUENCING
Todorova A1,*, Guergueltcheva V2, Genova J3, Mihaylova V2, Todorov T1, Tchamova T2, Georgieva B1, Kremensky I4, Tournev I,2,5 Mitev V1
*Corresponding Author: Albena Todorova, Department of Chemistry and Biochemistry, Medical University Sofia, 2 “Zdrave” str., Sofia 1431, Bulgaria; Tel./Fax: +359-2-9530715; E-mail: todorova_albena@abv.bg
page: 3

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.

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.

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.

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.

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. Bulgarian Neuromuscular Dystrophy Society (http://www.nmd-bg.com/).




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