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Germline SDHB, SDHC, and/or SDHD mutations have been reported in familial and apparently sporadic paragangliomas (PGLs). There is, however, some variation in the prevalence, penetrance, and phenotypic expression of the succinate dehydrogenase (SDH) mutated gene among different populations. We sought to determine whether germline mutations in SDHB, SDHC, and/or SDHD play a role in cervical PGLs from northern Spain, where this disorder is particularly frequent, and whether there is any difference with respect to the data published in other populations.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

High Frequency of Germline Succinate Dehydrogenase Mutations in Sporadic Cervical Paragangliomas in Northern Spain: Mitochondrial Succinate Dehydrogenase Structure-Function Relationships and Clinical-Pathological Correlations