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GENATLAS PHENOTYPE
last update : 23-04-2020
Symbol EMD
Location Xq28
Name Emery-Dreifuss muscular dystrophy
Other name(s)
  • muscular dystrophy, tardive, Emery-Dreifuss type, with contractures
  • scapuloperoneal syndrome
  • humeroperoneal neuromuscular disease
    • Corresponding gene EMD
    related resource Emery-Dreifuss Muscular Dystrophy, EMD
    Other symbol(s) EDMD1
    Main clinical features
  • early contractures of the elbows, achille tendons and post-cervical muscles, slow progressive muscle wasting and weakness, cardiomyopathy presenting with arrhythmia and atrial paralysis and heart block
    • Genetic determination sex linked
    Related entries including scapuloperoneal or humeroperoneal syndrome
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name emerin (EDMD) with deletions of the region between the two inverted repeats
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion   abnormal protein/loss of function loss or reduced expression at the nuclear envelope disrupting the Rb1/E2F and MyoD pathways during muscle regeneration
    unknown     mutation S54F and Delta95-99, disrupted binding to BCLAF1
    Remark(s)
    Genotype/Phenotype correlations
  • missense and short deletion mutations P22L, deltaK37 and T43I were discovered in emerin LEM-domain, associated with isolated atrial cardiac defects (ACD) (PMID: 31185657))