期刊
CLINICAL AUTONOMIC RESEARCH
卷 23, 期 2, 页码 105-107出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s10286-012-0181-7
关键词
Primary erythromelalgia; SCN9A; Autonomic nervous system
资金
- Korea Research Foundation
- Korean Government [KRF-2010-0021295]
Primary 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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