Condition: Acidosis, Lactic


rs772037717 in FBXL4 gene and Acidosis, Lactic PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs372949028 in TANGO2 gene and Acidosis, Lactic PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.