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Nat Genet. 2000 Nov;26(3):265-6.

Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.

Author information

1
Department of Pediatrics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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.

PMID:
11062458
DOI:
10.1038/81543
[Indexed for MEDLINE]

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