Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Mol Genet Metab. 2017 Mar;120(3):213-222.
Pubmed Abstract

See how Fabric Genomics’ (formerly Omicia) Opal 4.8.0 was used for annotation and filtering.