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GENATLAS PHENOTYPE
last update : 05-11-2012
Symbol RCM2
Location 2q35
Name restrictive cardiomyopathy 2
Corresponding gene DES
Main clinical features
  • impaired diastolic function, but intact systolic function until later stages of the disease, ultimately leading to heart failure
  • age of onset and severity/rate of progression being highly variable and there is no symptom-based evidence of skeletal muscle involvement
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Remark(s)