Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.

Journal article

BACKGROUND: Germline mutations in three subunits of mitochondrial complex II (SDHB, SDHC and SDHD) may be associated with susceptibility to phaeochromocytoma (PC) and/or head and neck paraganglioma (HNPGL). METHODS: To further define the role of SDH subunit mutations in these disorders, we analysed a series of 22 probands with PC and evidence of genetic susceptibility (seven with familial PC only, one with familial PC and HNPGL, 10 sporadic cases with multiple PC and four cases of isolated p...

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Authors: Astuti, D; Hart-Holden, N; Latif, F; Lalloo, F; Black, G

• Publication status: Published
• Journal: Clinical endocrinology
• Volume: 59
• Issue: 6
• Pages: 728-733
• Publication date: 2003-12-01
• DOI: 10.1046/j.1365-2265.2003.01914.x
• EISSN: 1365-2265
• ISSN: 0300-0664
• Language: English
• Keywords: Paraganglioma; Succinate Dehydrogenase; Adult; Middle Aged; Germ-Line Mutation; Iron-Sulfur Proteins; Pheochromocytoma; Protein Subunits; Neoplasm Proteins; Membrane Proteins; Adolescent; Genetic Predisposition to Disease; Adrenal Gland Neoplasms; Child; Humans; DNA Mutational Analysis; Head and Neck Neoplasms