Leiden Muscular Dystrophy pages^©

Center for Human and Clinical Genetics,

Leiden University Medical Center

NOTE:  The information on these pages is not updated frequently, all our efforts are directed to the gene variant databases we keep.

These Internet-pages are specifically designed for scientist performing research and/or diagnosis in Duchenne and Duchenne-like muscular dystrophies (i.e. Duchenne, Becker, Limb-Girdle). Interested non-scientist seeking information on muscular dystrophies are referred to:
.........Information for non-scientists (in het Nederlands; Spierdystrofie onderzoek en patiëntenzorg in Leiden).

Contents

• Index of subjects discussed at these pages
   
• Projects for students - help us
   
• Muscular dystrophies on these pages
• LMDp gene variant databases  - standard url http://www.LOVD.nl/geneID.. 
  • genes - these pages focus on genes that are linked to muscular dystrophy. Using the GV shared LOVD-databases we do however collect information on genes and variants covering all human genes and phenotypes.
  • DMD gene reading frame checker  -  predict the effect of exon deletions/duplications on the reading frame. An alternative is DOVE (DMD Open-access Variant Explorer)
    NOTE - we now offer a reading frame checker for all genes (see the link "Reading frame checker" ("Graphical displays and utilities" section) on the gene variant database home page) of any gene
  • submission
  • description of sequence variants  -  HGVS nomenclature
• the diseases
  Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XLDC), Limb-Girdle muscular dystrophy (LGMD), sarcoglycanopathies, hyperCKemia and RMD, congenital muscular dystrophy (CMD / MDC)
• the genes and proteins on these pages
  dystrophin, the dystrophin-associated glyco-protein complex (DGC - dystroglycans, sarcoglycans, sarcospan, syntrophins), homologous proteins (utrophin, DRP2, dystrobrevin), genes involved in neuromuscular disorders, retinoshisis (RS1)
• diagnostic techniques
  • neuromuscular disorders (for genes covered see above)
  • DMD/BMD - Leiden protocols, mutation detection (MLPA / MAPH, DHPLC, DGGE, protein truncation test [PTT], myoD-induced myogenesis), analysis of DNA, RNA, protein, cell lines and biopsies
• DMD Genetic Therapy group
• references to scientific literature  (used on these pages)
    
  
• Latest muscular dystrophy research news
  recent publications
   
• Links to related Internet-sites
  organizations and neuromuscular disorders, other muscular dystrophy / myopathy links, mutation databases
   
• Leiden research & diagnosis in neuromuscular disorders
  the department, research and diagnosis in neuromuscular disorders, possibilities for students, positions available
   
• Muscular dystrophy news   (last update Oct. 2004)
   
• Important notice  -  Copyright^© / Liability
   
• Remarks and information

Latest updates / New on these pages

• Latest news  -  outdated !

Important notice

Copyright^© - The Leiden Muscular Dystrophy pages (LMDp) are the intellectual property of our employer, the Leiden University Medical Center (LUMC). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator will lead to copyright infringement with possible ensuing litigation. Copyright © Leiden University Medical Center (LUMC) 2003. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the Leiden University Medical Center (LUMC) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. 

Remarks and information

Please note that the information on these pages is currently not updated frequently, all our efforts are directed to the gene variant databases we keep. The value of the pages lies especially in providing data which is not (yet) published or which is spread over many sites at other places. Please, when you have information which might be interesting to other researchers and which could be linked to these page, contact us.

The information contained in these pages is collected, compiled and curated by:

Johan T. den Dunnen
Clinical Genetics & Human Genetics, S4-030
Leiden University Medical Center
Einthovenweg 20
2333ZC LEIDEN
Nederland
Tel.: +31 - 71 - 526 9501 / 9400
Fax.: +31 - 71 - 526 8285
E-mail: ddunnen @ HumGen.nl

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