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GENATLAS PHENOTYPE
last update : 06-09-2018
Symbol CMD1I
Location 2q35
Name cardiomyopathy, dilated 1I
Corresponding gene DES
Main clinical features
  • without skeletal myopathy
  • major changes in the cardiomyocytes contractile apparatus and energetic metabolism
  • eccentric remodeling of cardiomyocyte, i.e. an increase in the long axis without concomitant increase in the wide axis, and the stretching of the intercalated disks (ID), which connect cardiomyocytes in series and allow force transmission
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    neuromuscular
    Type disease
    Gene product
    Name desmin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutations in the 1A helical domain, as well as the 2B rod domain
    Remark(s)