Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. | Read by QxMD (original) (raw)
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
I C Meij, J B Koenderink, H van Bokhoven, K F Assink, W T Groenestege, J J de Pont, R J Bindels, L A Monnens, L P van den Heuvel, N V Knoers
Primary hypomagnesaemia is composed of a heterogeneous group of disorders characterized by renal or intestinal Mg(2+) wasting, often associated with disturbances in Ca(2+) excretion. We identified a putative dominant-negative mutation in the gene encoding the Na(+), K(+)-ATPase gamma-subunit (FXYD2), leading to defective routing of the protein in a family with dominant renal hypomagnesaemia.
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