CNNM2, Encoding a Basolateral Protein Required for Renal Mg(2+) Handling, Is Mutated in Dominant Hypomagnesemia

Familial hypomagnesemia is a rare human disorder caused by renal or intestinal magnesium (Mg(2+)) wasting, which may lead to symptoms of Mg(2+) depletion such as tetany, seizures, and cardiac arrhythmias. Our knowledge of the physiology of Mg(2+) (re)absorption, particularly the luminal uptake of Mg...

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Main Authors: Stuiver, Marchel, Lainez, Sergio, Will, Constanze, Terryn, Sara, Günzel, Dorothee, Debaix, Huguette, Sommer, Kerstin, Kopplin, Kathrin, Thumfart, Julia, Kampik, Nicole B., Querfeld, Uwe, Willnow, Thomas E., Němec, Vladimír, Wagner, Carsten A., Hoenderop, Joost G., Devuyst, Olivier, Knoers, Nine V.A.M., Bindels, René J., Meij, Iwan C., Müller, Dominik
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3059432/
https://ncbi.nlm.nih.gov/pubmed/21397062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.02.005
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