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Article

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2013

Rodriguez Patricia Q, Lohkamp Bernhard, Celsi Gianni, Mache Christoph Johannes, Auer-Grumbach Michaela, Wernerson Annika, Hamajima Nobuyuki, Tryggvason Karl, Patrakka Jaakko

Abstract excerpt

BACKGROUND: Mutations in inverted formin, FH2, and WH2 domain containing (INF2) are common causes of dominant focal segmental glomerulosclerosis. INF2 encodes a member of the diaphanous-related formin family, which regulates actin and microtubule cytoskeletons. Charcot-Marie-Tooth neuropathy (CMT) is a group of inherited disorders affecting peripheral neurons. Many reports have shown that glomerulopathy can...

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Source

Identifiers

PMID: 22961558
DOI: 10.1007/s00467-012-2299-1

Genes

INF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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