Publications

Fullerton M et al. The genetic basis of isolated complex II deficiency.Mol Genet Metab. 2020;131(1-2):53-65. PMID: 33162331.

Courage C et al. SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. Am J Med Genet A. 2017;173(1):225-230. PMID: 27683074.

Amar L et al. International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers. Nat Rev Endocrinol. 2021;17:435-444. PMID: 34021277.