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GENATLAS PHENOTYPE
last update : 27-12-2016
Symbol RCM5
Location 3p21.1
Name restrictive cardiomyopathy 5
Corresponding gene TNNC1
Main clinical features
  • restrictive cardiomyopathy, heart failure and early death
  • associated to abnormal diastolic function that results from impaired ventricular filling, increased ventricular end-diastolic pressure, and dilated atria and a diminished capacity of the diseased heart to fully relax during diastole with por prognosis
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease
    Remark(s)