Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis

Bautista Medina, Mario Arturo y Gallardo Blanco, Hugo L. y Martínez Garza, Laura Elia y Cerda Flores, Ricardo Martín y Lavalle González, Fernando Javier y Villarreal Pérez, Jesús Zacarías (2020) Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis. Biomedical Reports. ISSN 2049-9434, 2049-9442

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Resumen

Hypokalemic periodic paralysis type 1 (OMIM; HOKPP1) and type 2 (OMIM; HOKPP2) are diseases of the muscle characterized by episodes of painless muscle weakness, and is associated with low potassium blood levels. Hyperthyroidism has been associated with thyrotoxic periodic paralysis (TTPP) (OMIM; TTPP1 and TTPP2), and genetic susceptibility has been implicated. In the present study, the clinical and epidemiological characteristics of patients with TTPP are described, together with their association with genetic variants reported previously in other populations. A prospective and a retrospective search of the medical records of patients who attended the emergency department at the Hospital Universitario ‘Dr. Jose E. Gonzalez’ in Monterrey, Nuevo León, Mexico, and were diagnosed with TTPP was performed. A total of 16 gene variants in the genes MUC1, CACNA1S, KCNE3 and SCN4A, and nine ancestry informative markers (AIMs), were analysed by Multiplex TaqMan

Tipo de elemento:

Article

Palabras claves no controlados:

CACNA1s, KCNE3, MUC1, SCN4A, association study, Genetic variant, Hypokalemic periodic paralysis, Thyrotoxic hypokalemic periodic paralysis

Materias:

CONACYT > Medicina y Ciencias de la Salud

Divisiones:

Medicina

Usuario depositante:

Dr.C. Hugo Gallardo Blanco

Creadores:

Creador	Email	ORCID
Bautista Medina, Mario Arturo	NO ESPECIFICADO	NO ESPECIFICADO
Gallardo Blanco, Hugo L.	hugo.gallardobl@uanl.edu.mx	orcid.org/0000-0002-7816-4967
Martínez Garza, Laura Elia	NO ESPECIFICADO	NO ESPECIFICADO
Cerda Flores, Ricardo Martín	NO ESPECIFICADO	NO ESPECIFICADO
Lavalle González, Fernando Javier	drfernandolavalle@hotmail.com	NO ESPECIFICADO
Villarreal Pérez, Jesús Zacarías	NO ESPECIFICADO	orcid.org/0000-0002-6814-062X