| 1 | PGL5, SDHAD
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| Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.
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| Dwight T, Mann K, Benn DE, Robinson BG, McKelvie P, Gill AJ, Winship I, Clifton-Bligh RJ.
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| J Clin Endocrinol Metab 98(6):E1103-8. doi: 10.1210/jc.2013-1400. Epub 2013 Apr 30. 2013
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| 2 | SDHA, SDHAD
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| Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.
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| Dwight T, Benn DE, Clarkson A, Vilain R, Lipton L, Robinson BG, Clifton-Bligh RJ, Gill AJ.
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| Am J Surg Pathol 37(2):226-33. doi: 10.1097/PAS.0b013e3182671155. 2013
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| 3 | SDHA, SDHAD, SDHB, SDHBD
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| Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
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| Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW.
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| J Med Genet 49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.
2012
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| 4 | SDHA, SDHAD
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| Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.
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| Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S.
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| Mol Genet Metab 89(3):214-21. Epub 2006 Jun 23. 2006
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| 5 | SDHA, SDHAD, SDHAL
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| Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
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| Parfait B, Chretien D, Rotig A, Marsac C, Munnich A, Rustin P.
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| Hum Genet 106(2):236-43. 2000
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| 6 | SDHA, SDHAD, SDHAL
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| Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
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| Bourgeron T, et al.
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| Nat Genet 11 : 144-149. 1995
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