Duchennova muskuárna dystrofia


Duchennova muskulárna dystrofia (DMD) je zriedkavé, ťažké, progresívne, genetické ochorenie postihujúce v prevažnej väčšine chlapcov. Spôsobuje stratu aktívnej svalovej hmoty od skorého veku.1,2,3










Referencie: 1. van Ruiten HJ, et al. Arch Dis Child. 2014;99(12):1074-1077. 2. Bushby K, et al. Lancet Neurol. 2010;9:77-93. 3. McDonald CM, et al. Muscle Nerve. 2013;48:343-356. 4. Foemans N, et al. Eur Neurol Rev. 2014;9(1):78-82. 5. Blake DJ, et al. Physiol Rev. 2002;82:291-329 6. Genetics Home Reference. DMD. Available at: http://ghr.nlm.nih.gov/gene/DMD Last accessed: September 2015. 7. Bladen CL, et al. Hum Mutat. 2015;36(4):395–402. doi: 10.1002/humu.22758. 8. Pichavant C, et al. Mol Ther. 2011;19(5):830–840. 9. Ferlini A, et al. Neuromuscul Disord. 2013;23(1):4–14. 10. Prior TW, et al. Am J Hum Genet. 1995;57:22–33. 11. Abbs S, et al. Neuromusc Disord. 2010;46:672–681. 12. Richards CS, et al. Am J Hum Genet. 1990;46:672–81. 13. Genetics Home Reference. What kind of gene mutations are possible? Available at: http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/possiblemutations. Last accessed: September 2015. 14. Flanigan KM et al. Am J Hum Genet. 2003;72:931–939. 15. Dent KM, et al. Am J Med Genet. A 2005;134:295–298.



Referencie: 1. van Ruiten HJ, et al. Arch Dis Child. 2014;99(12):1074-1077. 2. Bushby K, et al. Lancet Neurol. 2010;9:77-93. 3. McDonald CM, et al. Muscle Nerve. 2013;48:343-356. 4. Foemans N, et al. Eur Neurol Rev. 2014;9(1):78-82. 5. Blake DJ, et al. Physiol Rev. 2002;82:291-329 6. Genetics Home Reference. DMD. Available at: http://ghr.nlm.nih.gov/gene/DMD Last accessed: September 2015. 7. Bladen CL, et al. Hum Mutat. 2015;36(4):395–402. doi: 10.1002/humu.22758. 8. Pichavant C, et al. Mol Ther. 2011;19(5):830–840. 9. Ferlini A, et al. Neuromuscul Disord. 2013;23(1):4–14. 10. Prior TW, et al. Am J Hum Genet. 1995;57:22–33. 11. Abbs S, et al. Neuromusc Disord. 2010;46:672–681. 12. Richards CS, et al. Am J Hum Genet. 1990;46:672–81. 13. Genetics Home Reference. What kind of gene mutations are possible? Available at: http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/possiblemutations. Last accessed: September 2015. 14. Flanigan KM et al. Am J Hum Genet. 2003;72:931–939. 15. Dent KM, et al. Am J Med Genet. A 2005;134:295–298.