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GENATLAS PHENOTYPE
last update : 05-11-2012
Symbol DESM
Location 2q35
Name myopathy, myofibrillar, desmin-related
Other name(s)
  • myopathy myofibrillar, 1
  • myopathy, desmin-related
  • desminopathy, primary
  • arrhythmogenic right ventricular dysplasia familial 7
    • Corresponding gene DES
    Other symbol(s) MFM1, DRM, ARVD7
    Main clinical features
  • characterized by progressive muscle weakness spreading to truncal neck flexor, facial, bulbar and respiratory muscles
  • associated with cardiac dilated cardiomyopathy, conduction blocks, arrhythmias, restrictive heart failure, intestinal malabsorption and pseudoobstruction
  • desmin-reactive deposits in cardiac and skeletal muscle cells, at the biopsy, cytoplamic inclusions immunoreactive for desmin, and abnormal granulofilamentous aggregatase among the myofibrils, autosomal dominant or sporadic
    • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name desmin (DES)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function R350P desmin missense mutation, in the coil 2B domain of the alpha-helical coiled-coil desmin rod domain
    Remark(s)
  • mutations within the highly conserved alpha-helical structures are especially damaging since the integrity of the alpha-helix is critical for desmin filament assembly and stability
  • phenotypic features in patients with tail domain mutations are similar to those in patients with mutations localized in the 1B and 2B alpha-helical domains (PMID:
    • 23051780))