A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2016.1191483
Abstract: Purpose: Fabry disease is an X-linked genetic disorder caused by the mutations of α-galactosidase A (GLA, MIM 300644) gene presenting with various clinical symptoms including small-fiber peripheral neuropathy and limb burning pain. Here, we reported… read more here.
Keywords: novel mutation; fabry disease; galactosidase; primary erythromelalgia ... See more keywords
Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients
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DOI: 10.2340/actadv.v105.42022
Abstract: Gain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by intermittent attacks of painful, hot, swollen, and red skin,… read more here.
Keywords: erythromelalgia; variants scn9a; primary erythromelalgia; scn9a gene ... See more keywords
Primary erythromelalgia mainly manifested by hypertensive crisis: A case report and literature review
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DOI: 10.3389/fped.2022.796149
Abstract: Background Primary erythrocytic (PEM) is a rare autosomal dominant single gene disease. Most of the changes of gene loci can be found by whole exon gene sequencing, and the clinical symptoms and patient survival can… read more here.
Keywords: erythromelalgia mainly; primary erythromelalgia; crisis; hypertensive crisis ... See more keywords