https://scholars.lib.ntu.edu.tw/handle/123456789/519580
標題: | Characterization of a familial case with primary erythromelalgia from Taiwan | 作者: | MING-JEN LEE Yu H.-S. SUNG-TSANG HSIEH Stephenson D.A. Lu C.-J. Yang C.-C. |
公開日期: | 2007 | 卷: | 254 | 期: | 2 | 起(迄)頁: | 210-214 | 來源出版物: | Journal of Neurology | 摘要: | Familial primary erythromelalgia is a rare autosomal dominant disease characterized by redness and painful episodes of the feet and hands, which is often triggered by heat or exercise. In this report, a Taiwanese family with the characteristic features of erythromelalgia is described. Genetic linkage studies established that the disease locus maps to human chromosome 2. Sequence analysis indicated that the disease segregates with a novel mutation in the alpha subunit of the voltage-gated sodium channel (SCN9A or Nav1.7). The change observed is predicted to cause the substitution of a highly conserved isoluecine 136 for a valine within the first segment of the transmembrane domain (D1S1). Using immuno-histochemistry to stain a skin biopsy specimen from the affected region, we demonstrate that there is a significant reduction in the number of small fibers. ? 2007 Steinkopff Verlag. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33847666143&doi=10.1007%2fs00415-006-0328-3&partnerID=40&md5=5809c0ee1cffb3a489789e9cf93f7115 https://scholars.lib.ntu.edu.tw/handle/123456789/519580 |
ISSN: | 0340-5354 | DOI: | 10.1007/s00415-006-0328-3 | SDG/關鍵字: | isoleucine; valine; voltage gated sodium channel; adult; article; case report; chromosome 2; controlled study; erythromelalgia; familial disease; family; genetic linkage; human; human tissue; immunohistochemistry; male; mutation; nucleotide sequence; priority journal; sequence analysis; skin biopsy; staining; Taiwan |
顯示於: | 醫學系 |
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