Neuromuscular Disorders
Volume 18, Issue 6 , Pages 514-518 , June 2008

First International “Institute of Myology Workshop” on Facioscapulohumeral Muscular Dystrophy, Paris, May 22, 2007

  • F. Leterrier
    • ,
  • T. Voit

      Affiliations

    • Corresponding Author InformationCorresponding author. Address: Directeur médical et Scientifique, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtriere, 47-83 Bd de l’Hôpital, 75651 Paris 13, France.

Received 19 March 2008

References 

  1. Gabriëls J, Beckers MC, Ding H, et al. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3kb element. Gene. 1999;236:25–32
  2. Zhang YZ, Sun SC, Wu HC, et al. Polymorphism of the D4Z4 locus associated with FSHD1A in Shanghai population. Zonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22:380–382
  3. Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet. 2007;44(3):215–218
  4. Flanigan KM, Coffeen CM, Sexton L, Stauffer D, Brunner S, Leppert MF. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord. 2001;11:525–529
  5. Winokur ST, Chen YW, Masny PS, et al. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet. 2003;12(22):2895–2907
  6. Bakay M, Wang Z, Melcon G, et al. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain. 2006;129:996–1013
  7. Reed PW, Corse AM, Porter NC, Flanigan KM, Bloch RJ. Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Exp Neurol. 2007;205:583–586
  8. Dixit M, Ansseau E, Tassin A, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA. 2007;104(46):18157–18162
  9. Celegato B, Capitanio D, Pescatori M, et al. Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics. 2006;6:5303–5321
  10. Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, Vassetzky YS. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci USA. 2006;103:6982–6987
  11. Petrov A, Allinne J, Pirozhkova I, Laoudj D, Lipinski M, Vassetzky YS. A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: Implications for the facio-scapulo-humeral dystrophy. Genome Res. 2008;18:39–45
  12. Masny PS, Bengtsson U, Chung SA, et al. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?. Hum Mol Genet. 2004;13:1857–1871
  13. Kowaljow V, Marcowycz A, Ansseau E, et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord. 2007;17:611–623
  14. Gabellini D, Green MR, Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell. 2002;110:339–348
  15. Gabellini D, D’Antona G, Moggio M, Prelle A, Zecca C, Adami R, et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature. 2006;439:973–977
  16. D’Antona G, Brocca L, Pansarasa O, Rinaldi C, Tupler R, Bottinelli R. Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy. J Physiol. 2007;584:997–1009
  17. Lemmers RJ, Wohlgemuth M, van der Gaag KJ, et al. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2007;81:884–894
  18. Jiang G, Yang F, van Overveld PG, et al. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet. 2003;12:2909–2921

PII: S0960-8966(08)00107-7

doi: 10.1016/j.nmd.2008.04.007

Neuromuscular Disorders
Volume 18, Issue 6 , Pages 514-518 , June 2008

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