Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press3610.17650/2222-8721-2013-0-1-8-17LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫНемалиновые миопатии: клиническое разнообразие и генетическая гетерогенностьБеатриз РомероНорма
Russian Federation
nb.romero@institut-myologie.orgОтделение нервно-мышечной патологии, Институт миологии, университетская клиника Питье-Сальпетриер, Париж19052013318171902201519022015Copyright ©; 2013, .Copyright ©; 2013, Беатриз Ромеро Н.2013.Беатриз Ромеро Н.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/36

Врожденные миопатии составляют гетерогенную группу генетических мышечных патологий, вызванных структурной аномалией скелетной мышцы. Немалиновая миопатия принадлежит к обширной группе врожденных миопатий с белковыми включениями и характеризуется присутствием небольших включений в форме нитей, названных “rod”(англ., «стержень, прутик»). Речь идет о генетически обособленной группе, в которой идентифицированные основные ответственные гены кодируют белки тонких филаментов саркомеров. При этом сегодня гены определены лишь для 50 % известных случаев (ACTA 1, NEB, TPM2, TPM3, TNNT1, CFL2 и KBTBD13). Последнее обстоятельство требует продолжения научных поисков в этой мало раскрытой области.

врожденные миопатиинемалиновая миопатиямиопатии core-rodACTA1NEBTPM3TPM2TNNT1CFL2KBTBD131. Shy G.M., Engel W.K., Somers J.E. et al. Nemaline myopathy. A new congenital myopathy. Brain 1963;86:793–810.Shy G.M., Engel W.K., Somers J.E. et al. Nemaline myopathy. A new congenital myopathy. Brain 1963;86:793–810.2. Conen P.E., Murphy E.G., Donohue W.L. Light and electron microscopic studies of "myogranules" in a child with hypotonia and muscle weakness. Can Med Assoc J 1963;89:983–6.Conen P.E., Murphy E.G., Donohue W.L. Light and electron microscopic studies of "myogranules" in a child with hypotonia and muscle weakness. Can Med Assoc J 1963;89:983–6.3. Fardeau M., Tome F. Congenital myopathies, in Myology, 2nd ed., McGraw- Hill, New York, 1994, p. 1487–532.Fardeau M., Tome F. Congenital myopathies, in Myology, 2nd ed., McGraw- Hill, New York, 1994, p. 1487–532.4. North K.N. In: Myology, 3rd ed., McGraw-Hill, New York, 2004.North K.N. In: Myology, 3rd ed., McGraw-Hill, New York, 2004.5. Laing N.G., Wilton S.D., Akkari P.A. et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995;10(2):249.Laing N.G., Wilton S.D., Akkari P.A. et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995;10(2):249.6. Pelin K., Hilpelä P., Donner K. et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA 1999;96(5):2305–10.Pelin K., Hilpelä P., Donner K. et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA 1999;96(5):2305–10.7. Ryan M.M., Schnell C., Strickland C.D. et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50(3):312–20.Ryan M.M., Schnell C., Strickland C.D. et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50(3):312–20.8. Bertini E., Burghes A., Bushby K. et al. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11–13 February 2005, Naarden, The Netherlands. Neuromuscul Disord 2005;15(11):802–16.Bertini E., Burghes A., Bushby K. et al. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11–13 February 2005, Naarden, The Netherlands. Neuromuscul Disord 2005;15(11):802–16.9. Olivé M., Goldfarb L.G., Lee H.S. et al. Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve. 2010;42(6):901–7.Olivé M., Goldfarb L.G., Lee H.S. et al. Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve. 2010;42(6):901–7.10. Ilkovski B., Cooper S.T., Nowak K. et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletalactin gene. Am J Hum Genet 2001;68(6):1333–43.Ilkovski B., Cooper S.T., Nowak K. et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletalactin gene. Am J Hum Genet 2001;68(6):1333–43.11. Pelin K., Donner K., Holmberg M. et al. Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscul Disord 2002;12(7–8):680–6.Pelin K., Donner K., Holmberg M. et al. Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscul Disord 2002;12(7–8):680–6.12. Lehtokari V.L., Pelin K., Sandbacka M. et al. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat 2006;27(9):946–56.Lehtokari V.L., Pelin K., Sandbacka M. et al. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat 2006;27(9):946–56.13. Nowak K.J., Wattanasirichaigoon D., Goebel H.H. et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23(2):208–12.Nowak K.J., Wattanasirichaigoon D., Goebel H.H. et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23(2):208–12.14. Sparrow J.C., Nowak K.J., Durling H.J. et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2003;13(7–8):519–31.Sparrow J.C., Nowak K.J., Durling H.J. et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2003;13(7–8):519–31.15. North K.N., Laing N.G. In: The Sarcomere and skeletal muscle disease. Vol. 642. Springer Science + Business Media. New York, 2008; p.15–27.North K.N., Laing N.G. In: The Sarcomere and skeletal muscle disease. Vol. 642. Springer Science + Business Media. New York, 2008; p.15–27.16. Laing N.G., Dye D.E., Wallgren-Pettersson C. et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 2009;30(9):1267–77.Laing N.G., Dye D.E., Wallgren-Pettersson C. et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 2009;30(9):1267–77.17. Goebel H.H., Anderson J.R., Hübner C. et al. Congenital myopathy with excess of thin myofilaments. Neuromuscul Disord 1997;7(3):160–8.Goebel H.H., Anderson J.R., Hübner C. et al. Congenital myopathy with excess of thin myofilaments. Neuromuscul Disord 1997;7(3):160–8.18. Schröder J.M, Durling H., Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta Neuropathol 2004;108(3):250–6.Schröder J.M, Durling H., Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta Neuropathol 2004;108(3):250–6.19. Sambuughin N., Yau K.S., Olivé M. et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010;87(6):842–7.Sambuughin N., Yau K.S., Olivé M. et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010;87(6):842–7.20. Johnston J.J., Kelley R.I., Crawford T.O. et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000;67(4):814–21.Johnston J.J., Kelley R.I., Crawford T.O. et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000;67(4):814–21.21. Agrawal P.B., Greenleaf R.S., Tomczak K.K. et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007;80(1):162–7.Agrawal P.B., Greenleaf R.S., Tomczak K.K. et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007;80(1):162–7.22. Jungbluth H., Sewry C.A., Brown S.C. et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alphaactin (ACTA1) gene. Neuromuscul Disord 2001;11(1):35–40.Jungbluth H., Sewry C.A., Brown S.C. et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alphaactin (ACTA1) gene. Neuromuscul Disord 2001;11(1):35–40.23. Wallgren-Pettersson C., Pelin K., Nowak K.J. et al. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord 2004;14(8–9):461–70.Wallgren-Pettersson C., Pelin K., Nowak K.J. et al. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord 2004;14(8–9):461–70.24. Muntoni F., Valero de Bernabe B., Bittner R. et al. 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003,Muntoni F., Valero de Bernabe B., Bittner R. et al. 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003,Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscul Disord 2003;13(7–8):579–88.25. Nowak K.J., Sewry C.A., Navarro C. et al. Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol 2007;61(2):175–84.Nowak K.J., Sewry C.A., Navarro C. et al. Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol 2007;61(2):175–84.26. Ravenscroft G., Jackaman C., Bringans S. et al. Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain 2011;134(Pt 4):1101–15.Ravenscroft G., Jackaman C., Bringans S. et al. Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain 2011;134(Pt 4):1101–15.27. Monnier N., Romero N.B., Lerale J. et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. um Mol Genet 2000;9(18):2599–608.Monnier N., Romero N.B., Lerale J. et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. um Mol Genet 2000;9(18):2599–608.28. Scacheri P.C., Hoffman E.P., Fratkin J.D. et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000;55(11):1689–96.Scacheri P.C., Hoffman E.P., Fratkin J.D. et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000;55(11):1689–96.29. Hernandez-Lain A., Husson I., Monnier N. et al. De novo RYR1 heterozygous mutation (I4898T) causingHernandez-Lain A., Husson I., Monnier N. et al. De novo RYR1 heterozygous mutation (I4898T) causinglethal core-rod myopathy in twins. Eur J Med Genet 2011;54(1):29–33.30. Romero N.B., Lehtokari V.L., Quijano-Roy S. et al. Core-rod myopathy caused by mutations in the nebulin gene. Neurology 2009;73(14):1159–61.Romero N.B., Lehtokari V.L., Quijano-Roy S. et al. Core-rod myopathy caused by mutations in the nebulin gene. Neurology 2009;73(14):1159–61.31. Engel W.K., Oberc M.A. Abundant nuclear rods in adult-onset rod disease. J Neuropathol Exp NeurolEngel W.K., Oberc M.A. Abundant nuclear rods in adult-onset rod disease. J Neuropathol Exp Neurol1975;34(2):119–32.;34(2):119–32.32. Dalakas M.C., Pezeshkpour G.H., Flaherty M. Progressive nemaline (rod) myopathy associated with HIV infection. N Engl J Med 1987;317(25):1602–3.Dalakas M.C., Pezeshkpour G.H., Flaherty M. Progressive nemaline (rod) myopathy associated with HIV infection. N Engl J Med 1987;317(25):1602–3.33. Chahin N., Selcen D., Engel A.G. Sporadic late onset nemaline myopathy. Neurology 2005;65(8):1158–6.Chahin N., Selcen D., Engel A.G. Sporadic late onset nemaline myopathy. Neurology 2005;65(8):1158–6.34. Engel A.G. Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases. Mayo Clin Proc 1966;41(11):713–41.Engel A.G. Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases. Mayo Clin Proc 1966;41(11):713–41.35. Benveniste O., Laforet P., Dubourg O. et al. Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy. Neurology 2008;71(7):531–2.Benveniste O., Laforet P., Dubourg O. et al. Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy. Neurology 2008;71(7):531–2.36. Voermans N.C., Minnema M., Lammens M. et al. Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology 2008;71(7):532–4.Voermans N.C., Minnema M., Lammens M. et al. Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology 2008;71(7):532–4.