Hypomagnesemia

[1]. Astrid Godron, et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. Clin J Am Soc Nephrol. 2012 May;7(5):801-9. [Content Brief]

[2]. Francisco J Arjona, et al. CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. PLoS Genet. 2014 Apr 3;10(4):e1004267. [Content Brief]

[3]. Jeroen H F de Baaij, et al. Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia. Nephrol Dial Transplant. 2015 Jun;30(6):952-7. [Content Brief]

[4]. Karl P Schlingmann, et al. Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am J Hum Genet. 2018 Nov 1;103(5):808-816. [Content Brief]

[5]. Karl P Schlingmann, et al. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. [Content Brief]

[6]. Marchel Stuiver, et al. CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. Am J Hum Genet. 2011 Mar 11;88(3):333-43. [Content Brief]

[7]. Sergio Lainez, et al. New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia. Eur J Hum Genet. 2014 Apr;22(4):497-504. [Content Brief]

[8]. Wouter M Tiel Groenestege, et al. Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest. 2007 Aug;117(8):2260-7. [Content Brief]