Early- and late-onset inherited erythromelalgia: genotype–phenotype correlation
نویسندگان
چکیده
منابع مشابه
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burning pain in response to mild warmth, has been shown to be caused by gain-of-function mutations of sodium channel Na(v)1.7 which is preferentially expressed within dorsal root ganglion (DRG) and sympathetic ganglion neurons. Almost all physiologically characterized cases of IEM have been associated with o...
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ژورنال
عنوان ژورنال: Brain
سال: 2009
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awp078