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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease arrhythmogenic right ventricular cardiomyopathy
Comorbidity C0026848|myopathy
Sentences 2
PubMedID- 22395865 Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (arvc) in a swedish family.
PubMedID- 23860144 There was one desmin related myopathy with arvd, who had cardiac transplantation and both skeletal and cardiac muscle showed characteristic rimmed vacuoles and inclusions positive for desmin.

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