MRUPAV

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MRUPAV STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • myopathy, distal, with rimmed vacuoles MONDO:0014945

    Green MRUPAV STR in Repeat Disorders


    Version 0.167

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • myopathy, distal, with rimmed vacuoles MONDO:0014945
    Tags
    • adult-onset