Literature DB >> 1536168

Autosomal dominant erythromelalgia.

W H Finley1, J R Lindsey, J D Fine, G A Dixon, M K Burbank.   

Abstract

We present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been identified, and the pathogenetic mechanism has not been established. Most affected individuals are female.

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Year:  1992        PMID: 1536168     DOI: 10.1002/ajmg.1320420310

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.

Authors:  J P Drenth; W H Finley; G J Breedveld; L Testers; J J Michiels; G Guillet; A Taieb; R L Kirby; P Heutink
Journal:  Am J Hum Genet       Date:  2001-03-20       Impact factor: 11.025

2.  Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.

Authors:  Chongyang Han; Angelika Lampert; Anthony M Rush; Sulayman D Dib-Hajj; Xiaoliang Wang; Yong Yang; Stephen G Waxman
Journal:  Mol Pain       Date:  2007-01-19       Impact factor: 3.395

  2 in total

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