Neuromuscular Disorders
Volume 19, Issue 10 , Pages 721-729 , October 2009

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands

  • Heinz Jungbluth

      Affiliations

    • Clinical Neuroscience Division, King’s College, London, UK
    • Department of Paediatric Neurology – Neuromuscular Service, Evelina Children’s Hospital, St. Thomas’ Hospital, London, UK
    • Corresponding Author InformationCorresponding author. Address: Department of Paediatric Neurology – Neuromuscular Service, Evelina Children’s Hospital, St. Thomas’ Hospital, Lambeth Palace Road, London SE1 7EH, UK.
    • ,
  • Carina Wallgren-Pettersson

      Affiliations

    • Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    • The Folkhälsan Department of Medical Genetics, Helsinki, Finland
    • ,
  • Jocelyn F. Laporte

      Affiliations

    • Department of Neurobiology and Genetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch F-67400, France
    • Inserm, U964, Illkirch F-67400, France
    • CNRS, UMR7104, Illkirch F-67400, France
    • Université de Strasbourg, Strasbourg F-67000, France
    • Collège de France, Illkirch F-67400, France
    • ,
  • on behalf of the Centronuclear (Myotubular) Myopathy Consortium

Received 6 June 2009

References 

  1. Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008;3:26
  2. Bertini E, Biancalana V, Bolino A, Buj-Bello A, Clague M, Guicheney P, et al. 118th ENMC international workshop on advances in myotubular myopathy. 26–28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy). Neuromuscul Disord. 2004;14:387–396
  3. Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996;13:175–182
  4. Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005;37(11):1207–1209
  5. Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, et al. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol. 2007;62(6):666–670
  6. Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007;39(9):1134–1139
  7. Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2007;17(4):338–345
  8. Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, et al. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet. 2006;15(21):3098–3106
  9. Bitoun M, Bevilacqua JA, Eymard B, Prudhon B, Fardeau M, Guicheney P, et al. A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. Neurology. 2009;72(1):93–95
  10. Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, et al. “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol. 2009;117(3):283–291
  11. McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, et al. Genotype–phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord. 2002;12:939–946
  12. McClelland VM, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry CA, Raiman J, Jungbluth H. Vici Syndrome – an additional case associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am J Med Genet, in press.
  13. Laporte J, Kress W, Mandel JL. Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Ann Neurol. 2001;50(1):42–46
  14. Sárközy A, Bushby K, Béroud C, Lochmüller H. 157th ENMC international workshop: patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands. Neuromuscul Disord. 2008;18(12):997–1001
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  19. Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005;37(3):289–294
  20. Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, et al. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci USA. 2002;99(23):15060–15065
  21. Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, et al. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet. 2008;17(14):2132–2143
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  25. Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, et al. MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul Disord. 2007;17(1):28–32

PII: S0960-8966(09)00548-3

doi: 10.1016/j.nmd.2009.06.373

Neuromuscular Disorders
Volume 19, Issue 10 , Pages 721-729 , October 2009

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