Neuromuscular Disorders
Volume 18, Issue 12 , Pages 997-1001 , December 2008

157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands

  • Anna Sárközy

      Affiliations

    • Institute of Human Genetics, University of Newcastle, TREAT-NMD Office, Newcastle upon Tyne NE1 3BZ, UK
    • ,
  • Kate Bushby

      Affiliations

    • Institute of Human Genetics, University of Newcastle, TREAT-NMD Office, Newcastle upon Tyne NE1 3BZ, UK
    • ,
  • Christophe Béroud

      Affiliations

    • CHU Montpellier, Laboratoire de Génétique Moléculaire, Montpellier F-34000, France
    • Inserm, U827, Montpellier F-34000, France
    • Univ. Montpellier I, Montpellier F-34000, France
    • ,
  • Hanns Lochmüller

      Affiliations

    • Institute of Human Genetics, University of Newcastle, TREAT-NMD Office, Newcastle upon Tyne NE1 3BZ, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 191 241 8602; fax: +44 191 241 8799.

References 

  1. Thirion C, Lochmüller H. Current status of gene therapy for muscle diseases. Drug News Perspect. 2007;20(6):357–363
  2. Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 2003;21(6):577–581
  3. Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005;33(Database issue):D514–D517
  4. Sherry ST, Ward MH, Kholodov M, et al. DbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308–311
  5. Ohtsubo M, Shimizu N, Minoshima S. The integrated database for mutations in disease-causing genes: mutation view/KMDB. Seikagaku. 2003;75(4):311–318
  6. Béroud C, Hamroun D, Collod-Béroud G, Boileau C, Soussi T, Claustres M. UMD (Universal Mutation Database): 2005 update. Hum Mutat. 2005;26(3):184–191
  7. Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach. Hum Mutat. 2005;26(2):63–68
  8. Riikonen P, Vihinen M. MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics. 1999;15(10):852–859
  9. Brown AF, McKie MA. MuStaR and other software for locus-specific mutation databases. Hum Mutat. 2000;15(1):76–85
  10. Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15(1):7–12
  11. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Improving sequence variant descriptions in mutation databases and literature using the mutalyzer sequence variation nomenclature checker. Hum Mutat. 2008;29(1):6–13
  12. Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat. 2000;15(1):86–94
  13. Worman HJ, Bonne G. “Laminopathies”: a wide spectrum of human diseases. Exp Cell Res. 2007;313(10):2121–2133
  14. van Engelen BG, van Veenendaal H, van Doorn PA, et al. The Dutch neuromuscular database CRAMP (Computer Registry of All Myopathies and Polyneuropathies): development and preliminary data. Neuromuscul Disord. 2007;17(1):33–37

PII: S0960-8966(08)00578-6

doi: 10.1016/j.nmd.2008.07.006

Neuromuscular Disorders
Volume 18, Issue 12 , Pages 997-1001 , December 2008

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