Article
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jun 2015
de Baaij Jeroen H F, Dorresteijn Eiske M, Hennekam Eric A M, Kamsteeg Erik-Jan, Meijer Rowdy, Dahan Karin, Muller Michelle, van den Dorpel Marinus A, Bindels René J M, Hoenderop Joost G J, Devuyst Olivier, Knoers Nine V A M
Abstract excerpt
BACKGROUND: Magnesium (Mg(2+)) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg(2+) levels <0.7 mmol/L may cause a heterogeneous clinical phenotype, including muscle cramps and epilepsy and disturbances in K(+) and Ca(2+) homeostasis. Over the last decade, the genetic origin of several familial forms of hypomagnesaemia has been found. In 2000, mutations in FXYD2, encoding the...
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