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Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Rudenskaia G.E.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Shchagina O.A.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Tiburkova T.B.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Syhorukov V.S.

Obosoblennoe strukturnoe podrazdelenie «Nauchno-issledovatel'skij klinicheskij institut pediatrii» GBOU VPO RNIMU im. N.I. Pirogova Minzdrava Rossii, 125412 Moskva, ul. Taldomskaja, 2

Kharlamov D.A.

Moskovskiĭ NII pediatrii i detskoĭ khirurgii Rosmedtekhnologiĭ

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Merosin-deficient congenital muscular dystrophy (MCMD1A)

Authors:

Dadali E.L., Rudenskaia G.E., Shchagina O.A., Tiburkova T.B., Syhorukov V.S., Kharlamov D.A., Poliakov A.V.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2010;110(3): 83‑89

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MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (MCMD1A)
MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (MCMD1A)

To cite this article:

Dadali EL, Rudenskaia GE, Shchagina OA, Tiburkova TB, Syhorukov VS, Kharlamov DA, Poliakov AV. Merosin-deficient congenital muscular dystrophy (MCMD1A). S.S. Korsakov Journal of Neurology and Psychiatry. 2010;110(3):83‑89. (In Russ.)

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)
 
 
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Keywords:

congenital muscular dystrophy
congenital muscular dystrophy
mutations LAMA2
mutations LAMA2
merosin
merosin
MRI
MRI

Authors:

Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Rudenskaia G.E.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Shchagina O.A.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Tiburkova T.B.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Syhorukov V.S.

Obosoblennoe strukturnoe podrazdelenie «Nauchno-issledovatel'skij klinicheskij institut pediatrii» GBOU VPO RNIMU im. N.I. Pirogova Minzdrava Rossii, 125412 Moskva, ul. Taldomskaja, 2

Kharlamov D.A.

Moskovskiĭ NII pediatrii i detskoĭ khirurgii Rosmedtekhnologiĭ

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

List of references:

  1. Aver'yanov Yu.N. Vrozhdennaya myshechnaya distrofiya s leikoentsefalopatiei. Zhurn nevrol psikhiat 1993; 5: 27-29.
  2. Rudenskaya G.E., Galkina V.A., Dunaevskaya G.N. Redkie formy nasledstvennykh progressiruyushchikh myshechnykh distrofii s kontrakturami. Teoreticheskie i prikladnye problemy med. genetiki. M 1993; 105-119.
  3. Rudenskaya G.E., Dadali E.L., Sitnikov V.F. Nasledstvennaya sochetannaya tserebro-myshechnaya patologiya v detskom vozraste. Organizatsionnye i klinicheskie problemy detskoi nevrologii i psikhiatrii. M 1993; 253-255.
  4. Allamand V., Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM #156225, LAMA2 gene coding for α2 chain of laminin). Neurology 2002; 10: 91-94.
  5. Barkovich A. Pediatric Neuroimaging Lippincott, Williams and Wilkins, 4th Ed. 2005.
  6. Brockington M., Sewry C., Herrmann R. et al. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet 2000; 66: 428-435.
  7. Buteica E., Rosulescu E., Burada F. et al. Merosin-deficient congenital muscular dystrophy type 1A. Rom J Morphol Embryol 2008; 49: 229-233.
  8. Chae J., Lee J., Hwang H. et al. Merosin-deficient congenital muscular dystrophy in Korea. Brain Dev 2009; 31:341-346.
  9. Cohn R., Hermann R., Sorokin L. et al. Laminin α2 chain-deficient congenital muscular dystrophy. Variable epitope expression in severe and mild cases. Neurology 1998; 51: 94-100.
  10. Di Blasi C., Mora M., Pareyson D. et al. Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis. Ann Neurol 2000; 47: 811-816.
  11. Di Blasi C., Piga D., Brioschi P. et al. LAMA2 gene analysis in congenital muscular dystrophy. New mutations, prenatal diagnosis, and founder effect. Neurology 2005; 62: 1582-1586.
  12. Habeeb Y., Al-Jumah E., De Souza T. Congenital muscular dystrophy in Arab children. J Child Neurol 2006; 21: 400-405.
  13. Helbling-Leclerc A., Zhang X., Topaloglu H. et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995; 11: 216-218.
  14. Hillaire D., Leclerc A., Faure S. et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994; 3: 1657-1661.
  15. Jones K., Morgan G., Johnston H. et al. The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review. J Med Genet 2001; 38: 649-657.
  16. Leite C., Lucato L., Martin M. Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI. Pediat Radiol 2005; 35: 572-579.
  17. Lisi M., Cohn R. Congenital muscular dystrophies: new aspects of an expanding group of disorders. Biochim Biophys Acta 2007; 1772: 159-172.
  18. Oliviera J., Santos R., Soares-Silva I. et al. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clin Genet 2008; 74: 502-512.
  19. Peat R., Smith J., Compton A. et al. Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008; 71: 312-321.
  20. Philpot J., Cowan F., Pennock J. et al. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Neuromuscul Disord 1999; 9: 81-85.
  21. Prandini P., Berardinelli A., Fanin M. et al. LAMA2 loss-of- function mutation in a girl with congenital muscular dystrophy. Neurology 2004; 63: 1118-1121.
  22. Sewry C., Naom I., D'Alessandro M. et al. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabeling of two fragments of the laminin α2 chain. Neuromuscul Disord 1997; 7: 169-175.
  23. Tezak Z., Prandini P., Boscaro M. et al. Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha2 (LAMA2) deficiency. Hum Mutat 2003; 21: 103-111.
  24. Tome F., Evangelista T., Leclerc A. et al. Congenital muscular dystrophy with merosin deficiency. S R Acad Sci III 1994; 317: 351-357.
  25. Vainzhof M., Richard P., Hermann R. et al. Prenatal diagnosis of laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience if five international centers. Neuromuscul Disord 2005; 15: 588-594.
  26. Vigliano P., Dassi P., Blasi C. et al. LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. Eur J Paediat Neurol 2009; 13: 72-76.
  27. Xiong H., Yao S., Yuan Y. et al. Diagnosis of congenital muscular dystrophy and clinical significance of merosin expression. Zhonghua Er Ke Za Zhl 2006; 44: 918-923.
  28. Yuan J., Takashima H., Higuchi I. et al. Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China. Neuropediatrics 2008; 39: 264-267.

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