Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia
- Baaij, J.H.F. de
- Dorresteijn, E.M.
- Hennekam, E.A.
- Kamsteeg, E.J.
- Meijer, R.
- Dahan, K.
- Muller, M
- Dorpel, M.A. van den
- Bindels, R.J.M.
- Hoenderop, J.G.J.
- Devuyst, O.
- Knoers, N.V.A.M.
DOIAbstract
Contains fulltext : 153826.pdf (publisher's version ) (Closed access)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 gamma-subunit of the Na(+)-K(+)-ATPase, were identified to cause isolated dominant hypomagnesaemia (IDH) in a large Dutch family suffering from hypomagnesaemia, hypocalciuria and chondrocalcinosis. However, no additional patients have been identif...
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