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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease dilated cardiomyopathy
Comorbidity C0574083|barth syndrome
Sentences 2
PubMedID- 24116962 The first disorder linked to abnormal mitochondrial lipid metabolism was barth syndrome of dilated cardiomyopathy associated with cyclical neutropenia, growth retardation and 3-methylglutaconic aciduria (clarke et al., 2013).
PubMedID- 23031367 Intrafamilial variability for novel taz gene mutation: barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.

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