Mol Genet Genomic Med 2021 May 7:e1692. Epub 2021 May 7.
Metabolism, Infection and Immunity Section, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Background: Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of symptoms including neurological disease, cardiomyopathy, and neoplasia (paraganglioma-pheochromocytomas (PGL/PCC), and gastrointestinal stromal tumors). Deleterious variants of SDHA are most frequently associated with Leigh and Leigh-like syndromes. Read More