TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12149
Abstract: Exome sequencing has recently identified mutations in the gene TANGO2 (transport and Golgi organization 2) as a cause of developmental delay associated with recurrent crises involving rhabdomyolysis, cardiac arrhythmias, and metabolic derangements. The disease is… read more here.
Keywords: cause; deficiency cause; delay; tango2 deficiency ... See more keywords
Management of cardiac arrhythmias in paediatric patients with TANGO2-deficiency disorder
Sign Up to like & getrecommendations! Published in 2023 at "Europace"
DOI: 10.1093/europace/euad122.351
Abstract: Abstract Funding Acknowledgements Type of funding sources: None. Background TANGO2-deficiency disorder (TDD) is a rare paediatric condition caused by bi-allelic mutations in the TANGO2 gene. TDD is characterised by susceptibility to metabolic crises with rhabdomyolysis,… read more here.
Keywords: paediatric patients; metabolic crises; patients tdd; deficiency disorder ... See more keywords