Article
Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Metabolic brain disease - 1 Feb 2017
Baertling Fabian, Alhaddad Bader, Seibt Annette, Budaeus Sonja, Meitinger Thomas, Strom Tim M, Mayatepek Ertan, Schaper Jörg, Prokisch Holger, Haack Tobias B, Distelmaier Felix
Abstract excerpt
VARS2 encodes a mitochondrial aminoacyl-tRNA-synthetase. Mutations in VARS2 have recently been identified as a cause of mitochondrial encephalomyopathy in three individuals. However, clinical information remained scarce. Exome sequencing lead us to identify compound heterozygous pathogenic VARS2 variants in a boy presenting with severe lactic acidosis, hypertrophic cardiomyopathy, epilepsy, and abnormalities on...
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