Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit |
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| Authors: | Meij I C Koenderink J B van Bokhoven H Assink K F Groenestege W T de Pont J J Bindels R J Monnens L A van den Heuvel L P Knoers N V |
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| Institution: | Department of Pediatrics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands. |
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| Abstract: | 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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