Family Resources

TANGO2 Journal Articles & Publications

• TANGO2-Related Metabolic Encephalopathy and Arrhythmias (GeneReviews – Jan 2018)
• TANGO2 -Genetic and Rare Diseases Information Center (GARD) (GARD – March 2018)
• Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations (American Journal of Human Genetics – Feb 2016)
• Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy (American Journal of Human Genetics – Feb 2016)
• JIMD Podcasts – It takes two to TANGO2 (Journal of Inherited Metabolic Disease podcasts)
• TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism (JIMD – December 2018)
• TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine – March 2019)
• The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria  (JIMD – August 2020)
• Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect (JIMD – September 2020)
• Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA) (Pediatric Neurology – February 2021)
• Quality of life, illness perceptions, and parental lived experiences in TANGO2-related encephalopathy and arrhythmias (European Society of Human Genetics 2022)
• Folate ameliorates arrhythmia in patient-derived TANGO2-decient iPSC-cardiomyocytes