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

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 neurological involvement (a...

Descripción completa

Detalles Bibliográficos
Autores principales: Petrakis, Ioannis, Drosataki, Eleni, Stavrakaki, Ioanna, Dermitzaki, Kleio, Lygerou, Dimitra, Konidaki, Myrto, Pleros, Christos, Kroustalakis, Nikolaos, Maragkou, Sevasti, Androvitsanea, Ariadni, Stylianou, Ioannis, Zaganas, Ioannis, Stylianou, Kostas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266752/
https://www.ncbi.nlm.nih.gov/pubmed/35806288
http://dx.doi.org/10.3390/ijms23137284

Ejemplares similares

Ejemplares similares