DMD_DMD_GAA

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DMD_DMD_GAA STR in Mendeliome


Version 2.636

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Duchenne muscular dystrophy MIM#310200
  • Becker muscular dystrophy MIM#300376
Tags
  • adult-onset
  • paediatric-onset

Amber DMD_DMD_GAA STR in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.10

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Duchenne muscular dystrophy MIM#310200
    • Becker muscular dystrophy MIM#300376
    Tags
    • adult-onset
    • paediatric-onset

    Amber DMD_DMD_GAA STR in Repeat Disorders


    Version 1.15

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Duchenne muscular dystrophy MIM#310200
    • Becker muscular dystrophy MIM#300376
    Tags
    • adult-onset
    • paediatric-onset