EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

2016/01/16 by Katharina Danhauser, Tobias B. Haack, Bader Alhaddad +8 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology #RNA modifications and cancer

paper · doi:10.1007/s11011-016-9793-2

openalex publication_date 2016/01/16 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Citations

• Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Cited by

• Neonatal encephalocardiomyopathy caused by mutations in VARS2
• Metabolic impact of pathogenic variants in the mitochondrial glutamyl‐tRNA synthetase EARS2