Leiden Muscular Dystrophy data pages^©

Subjects on the LMD pages

(last modified February 28, 2004)

Information for non-scientists

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Contents

• adhalin
• antibodies
  • dystrophin
  • dystrophin-associated glycoproteins
  • dystrophin related proteins
  • links
• Becker muscular dystrophy (BMD)
• BMD
• Brachydanio rerio DMD sequence  (zebra fish)
• CA-repeats
  • in relation to physical map
  • new CA-repeats
• caveolin-3 (CAV3)
  the gene, the mRNA, the protein, primers, sequences, LGMD-1C
• Congenital muscular dystrophy (CMD / MDC)
  • MDC1C - Fukutin-related protein gene (FKRP)
  • merosin-deficient CMD
• DGGE - Denaturing Gradient Gel-Electrophoresis
• DGC - dystrophin-associated glycoprotein complex

  • the Invertebrate DGC

• DHPLC - Denaturing High-Performance Liquid Chromatography
• diagnostic techniques
  • deletion detection (multiplex PCR)
  • DGGE
  • DHPLC
  • MAPH
  • myoD-induced muscle differentiation
  • protein truncation test (PTT)
• dilated cardiomyopathy (DCM, CMD)
  • CMD1A - lamin A/C (LMNA)
  • CDM1L - sarcoglycan delta (SGCD)
  • XLCM - dystrophin (DMD, X-linked dilated cardiomyopathy)
• DMD
  • females with DMD
  • involving translocations
  • age-related events in DMD
• DRP (dystrophin related proteins)
  • DRP1 - utrophin
  • DRP2
  • DRP3 - dystrobrevin: alpha- / beta-
• Drosophila melanogaster - fruit fly
  • dystrophin-like sequences
  • dystrophin-associated glycoprotein complex (DGC)
• Duchenne muscular dystrophy (DMD)
• dysferlin
  the gene, the mRNA, the protein, primers, sequences, LGMD-2B
• dystrobrevin
  • alpha
  • beta
• dystroglycan
  the gene, the mRNA, the protein, primers, sequences
  • alpha-dystroglycan
  • beta-dystroglycan
• dystrophin
  • alternative splicing
  • cDNA
    • hybridizations (annotated images for HindIII and BglII)
    • probes
    • reference sequence (numbering, exons, three reading frames)
    • sequences
  • clones
    • cDNA
    • genomic
  • exons (tabular view: size, hybridizing fragments)
  • exon sequences
  • gene
    • exon size, intron size
    • physical map
    • in Drosophila melanogaster (fruit fly)
  • introns (tabular view: size)
  • intron sequences
  • isoforms
    Dp427m, Dp427l, Dp427c, Dp427p, Dp260, Dp140, Dp116, Dp71, Dp40
  • mutation detection
    • Denaturing Gradient Gel-Electrophoresis
    • multiplex PCR
    • Protein Truncation Test (PTT)
    • myoD-induced myogenic differentiation
  • mutations  (disease causing)
    • deletions
    • detection
    • duplications
    • point mutations
    • translocations
  • physical map (markers in and around the dystrophin gene)
  • poly-adenylation sites
  • polymorphisms
    • CA-repeats
    • dystrophin gene
    • new CA-repeats
  • primer sequences
    • cDNA
    • genomic (per exon)
  • promoters
  • sequences
    • cDNA's (per isoform)
    • cDNA reference sequence (with numbering and protein sequence)
    • Drosophila melanogaster - dystrophin-like sequences (fruit fly)
    • genomic
    • protein isoforms
  • sequence variations:  Tables
    • ALL sequence variations; including disease-causing (mutations: DMD, BMD, IMD, XLDCM), unknown effect  (mutation or polymorphism), not disease-causing  (polymorphism)
    • disease-causing in animals
    • miscellaneous  (not specified / not confirmed)
• dystrophin-associated glycoprotein complex (DGC)
  • in Invertebrates (Drosophila - fruit fly)
  • in mammals
• DRP (dystrophin related proteins)
  • DRP1 - utrophin
  • DRP2
  • DRP3 - dystrobrevin: alpha- / beta-
• Emery-Dreifuss Muscular Dystrophy
• Fukutin
• Fukutin-related protein gene (FKRP)
  the gene, the mRNA, the protein, primers, sequences, LGMD-2I / MDC1C
• fruit fly - Drosophila melanogaster
  • dystrophin-like sequences
  • dystrophin-associated glycoprotein complex (DGC)
• heart failure: X-linked dilated cardiomyopathy (XLDC)
• images
  • dystrophin cDNA Southern blot hybridizations (per cDNA probe)
  • dystrophin multiplex PCR
  • dystrophin multiplex PTT
• Laminin
  alpha2, beta1, gamma1 (merosin)
• Limb-Girdle muscular dystrophy (LGMD)
  • LGMD-1A
  • LGMD-1B
  • LGMD-1C
  • LGMD-1D
  • LGMD-1E
  • LGMD-1F
  • LGMD-2A
  • LGMD-2B
  • LGMD-2C
  • LGMD-2D
  • LGMD-2E
  • LGMD-2F
  • LGMD-2G
  • LGMD-2H
  • LGMD-2I
  • LGMD-2J
• links into the Internet
• MAPH - Multiplex Amplified Probe Hybridisation
• MDC - muscular dystrophy, congenital (CMD)
• Merosin
  merosin-deficient CMD, secondary laminin-alpha2 deficiency
• multiplex PCR
• multiplex PTT
• muscular dystrophies (Duchenne-like)
  • simple description
  • disease - protein - chromosomal location
• mutations
• databases
• calpain-3 (LGMD-2A)
• caveolin-3  (LGMD-1C)
• dysferlin  (LGMD-2B)
• dystrophin
  • deletions / duplications
  • point mutation
• sarcoglycan
  • alpha  (LGMD-2D)
  • beta  (LGMD-2E)
  • gamma  (LGMD-2C)
  • delta  (LGMD-2F)
• telethonin (LGMD-2G)
• detection
• DGGE - Denaturing Gradient Gel-Electrophoresis
• DHPLC - Denaturing High-Performance Liquid Chromatography
• MAPH - Multiplex Amplified Probe Hybridisation
• myoD-induced myogenic differentiation
• multiplex PCR
• Protein Truncation Test (PTT)
• MyoD
  • myoD-induced myogenic conversion
  • myoD diagnostic service
• news (muscular dystrophy research)
  • old
  • recent
• nomenclature
  • dystrophin isoforms
  • mutation description
  • dystrophin-associated proteins
• polymorphisms dystrophin
  • CA-repeats
  • dystrophin gene
  • new CA-repeats
• Protein Truncation Test (PTT)
  • Duchenne / Becker muscular dystrophy (DMD / BMD)
  • Emery-Dreifuss muscular dystrophy (EMD)
• references
• sarcoglycan (general)
  • alpha
    the gene, the mRNA, the protein, primers, sequences, LGMD-2D
  • beta
    the gene, the mRNA, the protein, primers, sequences, CA-repeat, LGMD-2E
  • gamma
    the gene, the mRNA, the protein, primers, sequences, LGMD-2C
  • delta
    the gene, the mRNA, the protein, primers, sequences, LGMD-2F
  • espsilon
    the gene, the mRNA, the protein, primers, sequences
• sarcospan - SSPN
  the gene, the mRNA, the protein, primers, sequences
• SSPN - sarcospan
  the gene, the mRNA, the protein, primers, sequences
• syntrophin
  the gene, the mRNA, the protein, primers, sequences
• translocation - DMD
• telethonin
  the gene, the mRNA, the protein, primers, sequences, LGMD-2G
• utrophin
  the gene, the mRNA, the protein, primers, sequences
• X-linked dilated cardiomyopathy (XLCM)
• zebra fish DMD sequence  (Brachydanio rerio)

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