Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest-derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance.
Niemann
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Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.
Müller
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U
D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D042963:Electron Transport Complex II; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D008928:Mitochondria / Q000201:enzymology; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D016297:Mutagenesis, Site-Directed; D009386:Neoplastic Syndromes, Hereditary / Q000201:enzymology / Q000235:genetics*; D010088:Oxidoreductases / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D010235:Paraganglioma / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D021122:Protein Subunits; D013385:Succinate Dehydrogenase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics
D018076:DNA, Complementary; D008565:Membrane Proteins; D009097:Multienzyme Complexes; D021122:Protein Subunits; C108096:SDHC protein, human; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase