Hyperkalemic periodic paralysis : case report with a scna4 gene mutation and literature review
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Fecha
2020-09-23Autor(es)
Quiroga-Carrillo, ManuelaCorrea-Arrieta, Cristian
Ortiz-Corredor, Fernando
Suarez-Obando, Fernando
Autor(es) Corporativo(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
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Artículo de revista
ISSN
2090-6544 / 2090-6552
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Abstract
Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.
Enlace al recurso
https://www.hindawi.com/journals/crig/2020/8843410/Fuente
Case Reports in Genetics; Volumen 2020 , Páginas 1 - 4 (2020)
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