"There are four SDH genes - SDHA, SDHB, SDHC, SDHD (collectively called SDHx) - which encode the four protein subunits of the SDH mitochondrial enzyme 6,7. In addition, SDHAF2 is needed for SDHA protein flavination 7."
"There are four SDH genes - SDHA, SDHB, SDHC, SDHD (collectively called SDHx) - which encode the four protein subunits of the SDH mitochondrial enzyme 6,7. In addition, SDHAF2 is needed for SDHA protein flavination 7."
"There are four SDH genes - SDHA, SDHB, SDHC, SDHD (collectively called SDHx) - which encode the four protein subunits of the SDH mitochondrial enzyme 6,7. In addition, SDHAF2 is needed for SDHA protein flavination 7."
"In the citric acid cycle, SDH converts succinate to fumarate. Mutations in any one of the SDHx genes can result in mitochondrial dysfunction (SDH-deficiency) leading to neoplasia 6,7:"
"In the citric acid cycle, SDH converts succinate to fumarate. Mutations in any one of the SDHx genes can result in mitochondrial dysfunction (SDH-deficiency) leading to neoplasia 6,7:"
"associated with SDH-deficient GIST"
"common in SDH-deficient RCC"
"common in SDH-deficient RCC"
"lower penetrance than SDHD mutation"
"associated with SDH-deficient GIST"
"PitNET/pituitary adenoma: SDH-deficiency in"
"There are four SDH genes - SDHA, SDHB, SDHC, SDHD (collectively called SDHx) - which encode the four protein subunits of the SDH mitochondrial enzyme 6,7. In addition, SDHAF2 is needed for SDHA protein flavination 7."
"In the citric acid cycle, SDH converts succinate to fumarate. Mutations in any one of the SDHx genes can result in mitochondrial dysfunction (SDH-deficiency) leading to neoplasia 6,7:"
"SDHA mutation"
"SDHB mutation"
"SDHC epimutation (promotor hypermethylation)"
"SDHD mutation"
"Asymptomatic SDHx carriers should undergo clinical and biochemical screening from childhood 6. MRI is recommended for childhood screening, and MRI and PET-CT recommended for adulthood screening 6."
"PitNET/pituitary adenoma: SDH-deficiency in"
Expected headings
"Associations"
"Succinate dehydrogenase gene (SDHx) germline mutations increase the risk of sympathetic paragangliomas, head and neck paragangliomas, phaeochromocytomas, renal cell carcinoma (RCC), and gastric gastrointestinal stromal tumours (GIST) 1,2,6,7."
"Succinate dehydrogenase gene (SDHx) germline mutations increase the risk of sympathetic paragangliomas, head and neck paragangliomas, phaeochromocytomas, renal cell carcinoma (RCC), and gastric gastrointestinal stromal tumours (GIST) 1,2,6,7."
"There are four SDH genes - SDHA, SDHB, SDHC, SDHD (collectively called SDHx) - which encode the four protein subunits of the SDH mitochondrial enzyme 6,7. In addition, SDHAF2 is needed for SDHA protein flavination 7."