Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

Abstract excerpt

BACKGROUND: Autosomal dominant primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. OBJECTIVE: To describe the phenotypes and molecular data of a 10-member family with 5 symptomatic living patients with erythermalgia. RESULTS: The clinical phenotype of this family was featured by episodic or continuous symmetrical red swelling, irritating warmth,...

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