Article
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Molecular genetics and metabolism - 1 Mar 2017
Huang Xiaoping, Bedoyan Jirair K, Demirbas Didem, Harris David J, Miron Alexander, Edelheit Simone, Grahame George, DeBrosse Suzanne D, Wong Lee-Jun, Hoppel Charles L, Kerr Douglas S, Anselm Irina, Berry Gerard T
Abstract excerpt
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each...
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