The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone
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DOI: 10.3390/ijms23137284
Abstract: Renal hypomagnesemia syndromes involving CNNM2 protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel CNNM2 p.Pro482Ala variant, presenting with overt hypomagnesemia and mild… read more here.
Keywords: spironolactone; pro482ala variant; hypomagnesemia; cnnm2 ... See more keywords