Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia

BACKGROUND: Hypomagnesaemia with secondary hypocal-caemia (HSH) is a rare autosomal recessive disorder caused by pathogenic variants in TRPM6, encoding the channel-kinase transient receptor potential melastatin type 6. Patients have very low serum magnesium (Mg(2+)) levels and suffer from muscle cra...

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Detalles Bibliográficos
Autores principales: Vargas-Poussou, Rosa, Claverie-Martin, Felix, Prot-Bertoye, Caroline, Carotti, Valentina, van der Wijst, Jenny, Perdomo-Ramirez, Ana, Fraga-Rodriguez, Gloria M, Hureaux, Marguerite, Bos, Caro, Latta, Femke, Houillier, Pascal, Hoenderop, Joost G J, de Baaij, Jeroen H F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976740/
https://www.ncbi.nlm.nih.gov/pubmed/35561741
http://dx.doi.org/10.1093/ndt/gfac182

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