Наследственные мышечные дистрофии
https://doi.org/10.20538/1682-0363-2009-3(2)-72-77
Аннотация
Точная диагностика наследственных мышечных заболеваний начинает в последние годы внедряться в клиническую практику благодаря достижениям генетики. Открытие генетических дефектов, характерных для разных клинических вариантов мышечных дистрофий, дало возможность создать специфические тест-системы для верификации диагноза. Открытие генных и белковых причин нейромышечной патологии, однако, не исключает первичную клиническую диагностику, которая должна предшествовать генетическому анализу.
Об авторах
В. Б. ДоронинРоссия
Доронин Василий Борисович, клинический ординатор
тел. 8-923-221-3992
О. Б. Доронина
Россия
канд. мед. наук, доцент кафедры неврологии
Список литературы
1. Болезни нервной системы: руководство для врачей: в 2 т. Т. 1/под ред. Н.Н. Яхно. 4-е изд., перераб. и доп. -М.: Изд-во «Медицина», 2005.
2. Вельтищев Ю.Е. Наследственные болезни нервной системы. М.: Медицина, 1998.
3. Давиденков С.Н. Наследственные болезни нервной системы. М.: Медгиз, 1932.
4. Amato A., Darras B., Greenberg S., el al. Muscle diseases//Continuum. 2006. V. 12, № 3. P. 33-75.
5. Arahata K., Ishihara T., Kamakura K. et al. Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy//N. Engl. J. Med. 1989. V. 320. P. 138-142.
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. V. 333. P. 861-863.
7. Backman E., Henriksson K.G. Low-dose prednisolone treatment in Duchenne and Becker muscular dystrophy (BMD)//Neuromuscul. Disord. 1995. V. 5. P. 233-241.
8. Barton E., Zadel M., Welch E. et al. PTC124 nonsense mutation suppression therapy of Duchenne muscular dystrophy (DMD) [abstract]//Neurology 2005. 54 (suppl. 1). A176.
9. Barton-Davis E.R., Cordier L., Shoturma D. et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice//J. Clin. Invest. 1999. V. 104. P. 375-381.
10. Beenakker E.A., Fock J.M., Van Tol M.J. et al. Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial//Arch. Neurol. 2005. V. 62. P. 128-132.
11. Berko B.A., Swift M. X-linked dilated cardiomyopathy//N. Engl. J. Med. 1987. V. 316. P. 1186-1191.
12. Bione S., Maestrini E., Rivella S. et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy//Nat. Genet. 1994. V. 8. P. 323-327.
13. Bonne G., Di Barletta M.R., Varnous S. et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy//Nat. Genet. 1999. V. 21. P. 285-288.
14. Brais B., Bouchard J.P., Xie Y.G. et al. Short GCG expansions in the PABP2 gene cause oculo-pharyngeal muscular dystrophy//Nat. Genet. 1998. V. 18. P. 164-167.
15. Brook J.D., McCurrach M.E., Harley H.G. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member//Cell. 1992. V. 68. P. 799-808.
16. Brooke M. A clinician's view of neuromuscular disease. Baltimore: Williams & Wilkins, 1986.
17. Bushby K.M. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies//Neuromuscul. Disord. 1995. V. 5. P. 71-74.
18. Bushby K.M., Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: I: natural history//J. Neurol. 1993. V. 240. P. 98-104.
19. Connolly A.M., Schierbecker J., Renna R., Florence J. High dose weekly oral prednisone improves strength in boys with Duchenne muscular dystrophy//Neuromuscul. Disord. 2002. V. 12. P. 917-925.
20. Darras В.Т. Molecular genetics of Duchenne and Becker muscular dystrophy//J. Pediatr. 1990. V. 117. P. 1-15.
21. Darras В.Т., Jones H.R. Diagnosis of neuromuscular disorders in the era of DNA analysis//Pediatr. Neurol. 2000. V. 23. P. 289-300.
22. Fenichel G.M., Florence J.M., Pestronk A. et al. Long-term benefit from prednisone therapy in Duchenne muscular dystrophy//Neurology. 1991. V. 41. P. 1874-1877.
23. Ferlini A., Sewry C., Melis M.A. et al. X-linked dilated cardiomyopathy and the dystrophin gene//Neuromuscul. Disord. 1999. V. 9. P. 339-346.
24. Gabellini D., Green M.R., Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle//Cell. 2002. V. 110. P. 339-348.
25. Gregorevic P., Chamberlain J.S. Gene therapy for muscular dystrophy: a review of promising progress//Expert. Opin. Biol. Ther. 2003. V. 3. P. 803-814.
26. Griggs R.C., Tawil R., Storvick D. et al. Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology 1993b;43:2369-2372.
27. Harper P.S. Myotonic dystrophy. 2nd edition. London: WB Saunders, 1989.
28. Hewitt J.E., Lyle R., Clark L.N. et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy//Hum. Mol. Genet. 1994. V. 3. P. 1287-1295.
29. Hoogerwaard EM, van der Wouw PA, Wilde AA, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999;9:347-351.
30. Jones K, North K. The congenital muscular dystrophies. In: Jones HR, De Vivo DC, Darras ВТ, eds. Neuromuscular disorders of infancy, childhood, and adolescence: a clinician's approach. Philadelphia: Butterworth Heinemann, 2003,633.
31. Kissel J.T., Burrow K.L., Rammohan K.W., Mendell J.R. Mononuclear cell analysis of muscle biopsies in prednisone-treated and untreated Duchenne muscular dystrophy. CIDD Study Group // Neurology. 1991. V. 41. P. 667-672.
32. Kissel J.T., Lynn D.J., Rammohan K.W. et al. Mononuclear cell analysis of muscle biopsies in prednisone-and azathioprine-treated Duchenne muscular dystrophy//Neurology. 1993. V. 43 P. 532-536.
33. Kohler J., Rohrig D., Bathke K.D., Koch M.C. Evaluation of the facioscapulohumeral muscular dystrophy (F5HD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments//Clin. Genet. 1999. V. 55. P. 88-94.
34. Minetti C., Sotgia F., Bruno C. et al. Mutations in the caveolin-3 gene cause autosomal dominant limb girdle muscular dystrophy//Nat. Genet. 1998. V. 18. P. 365-368.
35. Nowak K.J., Davies K.E. Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment//F.MBO Rep. 2004. V. 5. P. 872-876.
36. Rafaelle Di Bar let ta M., Ricci E., Galluzzi G. et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy // Am. J. Hum. Genet. 2000. V. 66. P. 1407-1412.
37. Reilly M., Hanna M. Genetic neuromuscular disease//Journal of Neurology, Neurosurgery and Psychiatry. 2002. № 73. P. 12-21.
38. Ricker K., Koch M.C., Lehmann-Horn F. et al. Proximal myotonic myopathy: clinical features of a multisystem disorder similar to myotonic dystrophy//Arch. Neurol. 1995. V. 52. P. 25-31.
39. Tarnopolsky M.A., Mahoney D.J., Vajsar J. et al. Creatine monohydrate enhances strength and body composition in Duchenne muscular dystrophy//Neurology. 2004. V. 62. P. 1771-1777.
40. Tidball J.G., Spencer M.J. Skipping to new gene therapies for muscular dystrophy//Nat. Med. 2003. V. 9. P. 997-998.
41. Van der Maarel S.M., Frants R.R. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy//Am. J. Hum. Genet. 2005. V. 76. P. 375-386.
42. Van Deutekom J.C., van Ommen G.J. Advances in Duchenne muscular dystrophy gene therapy//Nat. Rev. Genet. 2003. V. 4. P. 774-783.
43. Van Overveld P.G., Lemmers R.J., Sandkuijl L.A. et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy//Nat. Genet. 2003. V. 35. P. 315-317.
Рецензия
Для цитирования:
Доронин В.Б., Доронина О.Б. Наследственные мышечные дистрофии. Бюллетень сибирской медицины. 2009;8(3(2)):72-77. https://doi.org/10.20538/1682-0363-2009-3(2)-72-77
For citation:
Doronin V.B., Doronina O.B. Hereditary muscular dystrophies. Bulletin of Siberian Medicine. 2009;8(3(2)):72-77. (In Russ.) https://doi.org/10.20538/1682-0363-2009-3(2)-72-77