The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone

Renal hypomagnesemia syndromes involving <i>CNNM2</i> protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel <i>CNNM2</i> p.Pro482Ala variant, presenting with overt hypomagnesemi...

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Bibliographic Details
Main Authors: Ioannis Petrakis, Eleni Drosataki, Ioanna Stavrakaki, Kleio Dermitzaki, Dimitra Lygerou, Myrto Konidaki, Christos Pleros, Nikolaos Kroustalakis, Sevasti Maragkou, Ariadni Androvitsanea, Ioannis Stylianou, Ioannis Zaganas, Kostas Stylianou
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:International Journal of Molecular Sciences
Subjects:
hypomagnesemia
HOMG6
CNNM2
whole exome sequencing
Online Access:https://www.mdpi.com/1422-0067/23/13/7284

Internet

https://www.mdpi.com/1422-0067/23/13/7284

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