The UMD-DMD France mutations database
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  • Phenotypic group DMD BMD IMD DCM Symptomatic carrier Asymptomatic male
  • Large deletions Large duplications Small lesions

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Patient data

  • Sample ID
  • Gender
    Male Female
  • Transmission
  • Mutation status
    Hemizygous Heterozygous
  • Patient status
    Proband Relative
  • Phenotypic group
    • DMD
    • BMD
    • IMD
    • DCM
    • Symptomatic carrier
    • Asymptomatic male

Molecular data

  • Mutation type
    Large deletions Large duplications Small lesions
  • Nucleotide
  • AA position
  • Exon
    From exon to exon
  • CpG
    Yes No
  • Structure
    Add

Muscular biopsy data

  • Immunofluorescence
  • Western blot