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1 - 4 of 4 results found for `SDHB mutations`.

  1. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated...

    Isolated complex II deficiency is a rare form of mitochondrial disease, accounting for approximately 2% of all respiratory chain deficiency diagnoses. The succinate dehydrogenase (SDH) genes (SDHA, SDHB, SDHC and SDHD) are autosomally-encoded and

  2. Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours

    Mutations in succinate dehydrogense-B (SDHB) and the von Hippel Lindau (VHL) genes result in an increased risk of developing chromaffin tumours via a common aetiological pathway. The aim of the current retrospective study was to compare the clinical

  3. Long-term prognosis of patients with pediatric pheochromocytoma.

    A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for

  4. SDHA mutated paragangliomas may be at high risk of metastasis.

    We report the clinical outcomes of eleven patients with succinate dehydrogenase subunit A (SDHA) germline mutations from three UK tertiary referral centres to highlight a more diverse and expanding clinical spectrum of associated phenotypes. We

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