mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

Abstract excerpt

Significance Statement Although advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling, some patients with tubulopathy lack a genetic diagnosis. In a cohort of patients with profound hypomagnesemia, renal salt wasting, nephrocalcinosis, and dilated cardiomyopathy, the authors performed whole-exome and -genome sequencing and identified...

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