Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

E Baysal, B; E Ferrell, R; E Willett-Brozick, J; C Lawrence, E; Myssiorek, D; Bosch, A; van der Mey, A; E Taschner, P; S Rubinstein, W; N Myers, E; W Richard, C; J Cornelisse, C; Devilee, P; Devlin, B

doi:10.1126/science.287.5454.848

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Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

Published in Science (New York, N.Y.) • Feb 4, 2000

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Authors:

B E Baysal

,

R E Ferrell

,

J E Willett-Brozick

Abstract

Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ that senses oxygen levels in the blood. Analysis of families carrying the PGL1 gene, described here, rev...

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