EDP Sciences logo
Authentification abonné
Rechercher
Menu
Accueil Tous les numéros Volume 36 (Décembre 2020) Hors série n° 2 Med Sci (Paris), 36 (2020) 22-27 Références
Accès gratuit
Numéro
Med Sci (Paris)
Volume 36, Décembre 2020
Les Cahiers de Myologie
Page(s) 22 - 27
Section Dystrophies musculaires des ceintures (LGMD)
DOI https://doi.org/10.1051/medsci/2020243
Publié en ligne 11 janvier 2021
  1. Duggan DJ, Gorospe JR, Fanin M, et al. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997 ; 336 : 618–624. [Google Scholar]
  2. Gao QQ, McNally EM. The dystrophin complex: structure, function, and implications for therapy. Compr Physiol 2015 ; 5 : 1223–1239. [Google Scholar]
  3. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: The 2014 update. Acta Myol 2014 ; 33 : 1–12. [PubMed] [Google Scholar]
  4. Asmus F, Salih F, Hjermind LE, et al. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Ann Neurol 2005 ; 58 : 792–797. [CrossRef] [PubMed] [Google Scholar]
  5. Ghaoui R, Cooper ST, Lek M, et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol 2015 ; 72 : 1424–1432. [Google Scholar]
  6. Liu W, Pajusalu S, Lake NJ, et al. Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases. Genet Med 2019 ; 21 : 2512–2520. [CrossRef] [PubMed] [Google Scholar]
  7. Trabelsi M, Kavian N, Daoud F, et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet 2008 ; 16 : 793–803. [Google Scholar]
  8. Dalichaouche I, Sifi Y, Roudaut C, et al. γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort. Muscle and Nerve 2017 ; 56 : 129–135. [CrossRef] [Google Scholar]
  9. Alavi A, Esmaeili S, Nilipour Y, et al. LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. J Neurogenet 2017 ; 31 : 161–169. [PubMed] [Google Scholar]
  10. Moore SA, Shilling CJ, Westra S, et al. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol 2006 ; 65 : 995–1003. [CrossRef] [PubMed] [Google Scholar]
  11. Alonso-Pérez J, González-Quereda L, Bello L, et al. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain 2020. doi:10.1093/brain/awaa228. [Google Scholar]
  12. Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet 1999 ; 82 : 392–398. [Google Scholar]
  13. Piccolo F, Jeanpierre M, Leturcq F, et al. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet 1996 ; 5 : 2019–2022. [CrossRef] [PubMed] [Google Scholar]
  14. Roberds SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994 ; 78 : 625–633. [CrossRef] [PubMed] [Google Scholar]
  15. Eymard B, Romero NB, Leturcq F, et al. Primary adhalinopathy (α-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997 ; 48 : 1227–1234. [Google Scholar]
  16. Semplicini C, Vissing J, Dahlqvist JR, et al. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. Neurology 2015 ; 84 : 1772–1781. [Google Scholar]
  17. Xie Z, Hou Y, Yu M, et al. Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. Orphanet J Rare Dis 2019 ; 14 : 43. [CrossRef] [PubMed] [Google Scholar]
  18. Tasca G, Monforte M, Díaz-Manera J, et al. MRI in sarcoglycanopathies: a large international cohort study. J Neurol Neurosurg Psychiatry 2018 ; 89 : 72–77. [CrossRef] [PubMed] [Google Scholar]
  19. Schade van Westrum SM, Dekker LRC, de Voogt WG, et al. Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study. Muscle Nerve 2014 ; 50 : 909–913. [Google Scholar]
  20. Kyriakides T, Angelini C, Vilchez J, Hilton-Jones D. European federation of the neurological societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia. Muscle Nerve 2020; 61 : E14–5. [Google Scholar]
  21. Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C. LGMD2E patients risk developing dilated cardiomyopathy. Neuromuscul Disord 2003 ; 13 : 303–309. [CrossRef] [PubMed] [Google Scholar]
  22. Politano L, Nigro V, Passamano L, et al. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromuscul Disord 2001 ; 11 : 178–185. [CrossRef] [PubMed] [Google Scholar]
  23. Sveen ML, Thune JJ, Køber L, Vissing J. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and becker muscular dystrophy. Arch Neurol 2008 ; 65 : 1196–1201. [CrossRef] [PubMed] [Google Scholar]
  24. Guimarães-Costa R, Fernández-Eulate G, Wahbi K, et al. Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies. Eur J Neurol 2020; Oct 14. doi:10.1111/ene.14592. [Google Scholar]
  25. Boito C, Fanin M, Siciliano G, Angelini C, Pegoraro E. Novel sarcoglycan gene mutations in a large cohort of Italian patients. J Med Genet 2003 ; 40 : e67. [CrossRef] [PubMed] [Google Scholar]
  26. Merlini L, Kaplan JC, Navarro C, et al. Homogeneous phenotype of the gypsy limb-girdle MD with the γ- sarcoglycan C283Y mutation. Neurology 2000 ; 54 : 1075–1079. [Google Scholar]
  27. Guglieri M, Magri F, D’Angelo MG, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008 ; 29 : 258–266. [CrossRef] [PubMed] [Google Scholar]
  28. Winckler PB, da Silva AMS, Coimbra-Neto AR, et al. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Clin Genet 2019 ; 96 : 341–353. [CrossRef] [PubMed] [Google Scholar]
  29. Sandonà D, Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med 2009 ; 11 : e28. [CrossRef] [PubMed] [Google Scholar]
  30. Bianchini E, Fanin M, Mamchaoui K, Betto R, Sandonà D. Unveiling the degradative route of the V247M a-sarcoglycan mutant responsible for LGMD-2D. Hum Mol Genet 2014 ; 23 : 3746–3758. [CrossRef] [PubMed] [Google Scholar]
  31. Poupiot J, Costa Verdera H, Hardet R, et al. Role of rregulatory T cell and effector T cell exhaustion in liver-mediated transgene tolerance in muscle. Mol Ther Methods Clin Dev 2019 ; 15 : 83–100. [CrossRef] [PubMed] [Google Scholar]
  32. Israeli D, Cosette J, Corre G, et al. An AAV-SGCG dose-response study in a γ-sarcoglycanopathy mouse model in the context of mechanical stress. Mol Ther Methods Clin Dev 2019 ; 13 : 494–502. [CrossRef] [PubMed] [Google Scholar]
  33. Zhu T, Zhou L, Mori S, et al. Sustained whole-body functional rescue in congestive heart failure and muscular dystrophy hamsters by systemic gene transfer. Circulation 2005 ; 112 : 2650–2659. [CrossRef] [PubMed] [Google Scholar]
  34. Li J, Wang D, Qian S, Chen Z, Zhu T, Xiao X. Efficient and long-term intracardiac gene transfer in δ-sarcoglycan-deficiency hamster by adeno-associated virus-2 vectors. Gene Ther 2003 ; 10 : 1807–1813. [CrossRef] [PubMed] [Google Scholar]
  35. Xiao X, Li J, Tsao Y-P, Dressman D, Hoffman EP, Watchko JF. Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapy. J Virol 2000 ; 74 : 1436–1442. [CrossRef] [PubMed] [Google Scholar]
  36. Cordier L, Hack AA, Scott MO, et al. Rescue of skeletal muscles of γ-sarcoglycan- deficient mice with adeno-associated virus-mediated gene transfer. Mol Ther 2000 ; 1 : 119–129. [CrossRef] [PubMed] [Google Scholar]
  37. Cordier L, Gao GP, Hack AA, et al. Muscle-specific promoters may be necessary for adeno-associated virus-mediated gene transfer in the treatment of muscular dystrophies. Hum Gene Ther 2001 ; 12 : 205–215. [Google Scholar]
  38. Li J, Dressman D, Tsao YP, et al. rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. Gene Ther 1999 ; 6 : 74–82. [CrossRef] [PubMed] [Google Scholar]
  39. Mendell JR, Rodino-Klapac LR, Rosales XQ, et al. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 2010 ; 68 : 629–638. [CrossRef] [PubMed] [Google Scholar]
  40. Rodino-Klapac LR, Lee JS, Mulligan RC, et al. Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology 2008 ; 71 : 240–247. [Google Scholar]
  41. Pacak CA, Walter GA, Gaidosh G, et al. Long-term skeletal muscle protection after gene transfer in a mouse model of LGMD-2D. Mol Ther 2007 ; 15 : 1775–1781. [CrossRef] [PubMed] [Google Scholar]
  42. Fougerousse F, Bartoli M, Poupiot J, et al. Phenotypic correction of α-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Mol Ther 2007 ; 15 : 53–61. [Google Scholar]
  43. Dressman D, Araishi K, Imamura M, et al. Delivery of α- and β-sarcoglycan by recombinant adeno-associated virus: efficient rescue of muscle, but differential toxicity. Hum Gene Ther 2002 ; 13 : 1631–1646. [Google Scholar]
  44. Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR. Systemic AAV-mediated β-sarcoglycan delivery targeting cardiac and skeletal muscle ameliorates histological and functional deficits in LGMD2E mice. Mol Ther 2017 ; 25 : 855–869. [CrossRef] [PubMed] [Google Scholar]
  45. Vitiello C, Faraso S, Sorrentino NC, et al. Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments. PLoS One 2009 ; 4 : e5051. [Google Scholar]
  46. Goehringer C, Rutschow D, Bauer R, et al. Prevention of cardiomyopathy in δ-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. Cardiovasc Res 2009 ; 82 : 404–410. [CrossRef] [PubMed] [Google Scholar]
  47. Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, et al. Limb-girdle muscular dystrophy type 2D gene therapy restores α-sarcoglycan and associated proteins. Ann Neurol 2009 ; 66 : 290–297. [CrossRef] [PubMed] [Google Scholar]
  48. Herson S, Hentati F, Rigolet A, et al. A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. Brain 2012 ; 135 : 483–492. [CrossRef] [PubMed] [Google Scholar]
  49. Mendell JR, Chicoine LG, Al-Zaidy SA, et al. Gene delivery for limb-girdle muscular dystrophy type 2d by isolated limb infusion. Hum Gene Ther 2019 ; 30 : 794–801. [Google Scholar]

Les statistiques affichées correspondent au cumul d'une part des vues des résumés de l'article et d'autre part des vues et téléchargements de l'article plein-texte (PDF, Full-HTML, ePub... selon les formats disponibles) sur la platefome Vision4Press.

Les statistiques sont disponibles avec un délai de 48 à 96 heures et sont mises à jour quotidiennement en semaine.

Le chargement des statistiques peut être long.