Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury.

Abstract excerpt

Mutations in ACTN4, the gene encoding the actin-binding protein alpha-actinin-4, are a cause of familial FSGS. We examined kidney biopsies from patients with ACTN4 mutations to characterize systematically the histopathology of kidney damage in these patients and to determine whether distinctive morphologic changes are associated with mutations in this gene. The changes observed with light microscopy were typical...

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