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- Min-Kyeong Kim, Ji-Won Yuk, Hyang-Sook Kim, Ki-Jong Park, and Dae-Seong Kim.
- Pusan National University School of Medicine, Pusan, Republic of Korea.
- Clin. Auton. Res. 2013 Apr 1; 23 (2): 105-7.
AbstractPrimary erythromelalgia (EM) is an autosomal dominant disorder caused by mutations of SCN9A. It is clinically characterized by reddish discoloration and episodic burning sensation of distal extremities triggered by warmth. We report a 49-year-old male with primary EM caused by SCN9A mutation (p.F216S), in whom an autonomic reflex screening test revealed a mild sudomotor dysfunction.
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