Neuromuscular Disorders
Volume 19, Issue 3 , Pages 229-234 , March 2009

158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th–10th February 2008 Naarden, The Netherlands

  • F. Muntoni

      Affiliations

    • Dubowitz Neuromuscular Centre, Institute of Child Health & Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 207905 2869; fax: +44 207905 2832.
    • ,
  • P. Guicheney

      Affiliations

    • INSERM U 582, Institute of Myology, Paris, France
    • ,
  • T. Voit

      Affiliations

    • University Pierre et Marie Curie, Inserm U974, AP-HP, Institute of Myology, Paris, France

References 

  1. Godfrey CCE, Mein R, Brockington M, et al. Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007;130:2725–2735
  2. Yanagisawa A, Bouchet C, Van den Bergh PY, et al. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Neurology. 2007;69:1254–1260
  3. Balci B, Uyanik G, Dincer P, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005;15:271–275
  4. Messina S, Mora M, Pegoraro E, et al. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscul Disord. 2008;18:565–571
  5. Villanova M, Mercuri E, Bertini E, et al. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. Neuromuscul Disord. 2000;10:541–547
  6. van Reeuwijk J, Maugenre S, van den Elzen C, et al. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat. 2006;27:453–459
  7. Mercuri E, D’Amico A, Tessa A, et al. POMT2 mutation in a patient with ‘MEB-like’ phenotype. Neuromuscul Disord. 2006;16:446–448
  8. van Reeuwijk J, Grewal PK, Salih MA, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 2007;121:685–690
  9. Bouchet C, Gonzales M, Vuillaumier-Barrot S, et al. Molecular heterogeneity in fetal forms of type II lissencephaly. Hum Mutat. 2007;28:1020–1027
  10. Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol. 2006;59:808–815
  11. Moore SA, Shilling CJ, Westra S, et al. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol. 2006;65:995–1003
  12. Jimenez-Mallebrera C, Torelli S, Feng L, et al. A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity. Brain Pathol 2008.
  13. Manya H, Bouchet C, Yanagisawa A, et al. Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Neuromuscul Disord. 2008;18:45–51
  14. Kanagawa M, Saito F, Kunz S, et al. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell. 2004;117:953–964
  15. Xiong H, Kobayashi K, Tachikawa M, et al. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun. 2006;350:935–941
  16. Clement EM, Godfrey C, Tan J, et al. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol. 2008;65:137–141
  17. Satz JS, Barresi R, Durbeej M, et al. Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. J Neurosci. 2008;28:10567–10575
  18. Parsons MJ, Pollard SM, Saude L, et al. Zebrafish mutants identify an essential role for laminins in notochord formation. Development. 2002;129:3137–3146
  19. Parsons MJ, Campos I, Hirst EM, et al. Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos. Development. 2002;129:3505–3512
  20. Pollard SM, Parsons MJ, Kamei M, et al. Essential and overlapping roles for laminin alpha chains in notochord and blood vessel formation. Dev Biol. 2006;289:64–76
  21. Thornhill P, Bassett D, Lochmuller H, et al. Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain. 2008;131:1551–1561
  22. Moore SA, Saito F, Chen J, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 2002;418:422–425
  23. Sveen ML, Jeppesen TD, Hauerslev S, et al. Endurance training: an effective and safe treatment for patients with LGMD2I. Neurology. 2007;68:59–61
  24. Barresi R, Michele DE, Kanagawa M, et al. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. 2004;10:696–703
  25. Brockington M, Torelli S, Prandini P, et al. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet. 2005;14:657–665
  26. Grewal PK, McLaughlan JM, Moore CJ, Browning CA, Hewitt JE. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. Glycobiology. 2005;15:912–923
  27. Patnaik SK, Stanley P. Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding. J Biol Chem. 2005;280:20851–20859
  28. Barresi R, Campbell KP. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci. 2006;119:199–207

PII: S0960-8966(08)00712-8

doi: 10.1016/j.nmd.2008.11.008

Neuromuscular Disorders
Volume 19, Issue 3 , Pages 229-234 , March 2009

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