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GENATLAS PHENOTYPE
last update : 06-01-2014
Symbol CMD1T
Location 12q22
Name cardiomyopathy dilated 1T
Corresponding gene TMPO
Main clinical features
  • severe dilated cardiomyopathy
  • early onset (20-25 years)
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R690C
    Remark(s)