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Article

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

Journal of neuropathology and experimental neurology - 1 Mar 2014

Mathis Stéphane, Funalot Benoît, Boyer Olivia, Lacroix Catherine, Marcorelles Pascale, Magy Laurent, Richard Laurence, Antignac Corinne, Vallat Jean-Michel

Abstract excerpt

The association of Charcot-Marie-Tooth (CMT) disease with renal dysfunction is uncommon but has long been recognized in several families. Recently, mutations in the INF2 gene, which encodes inverted formin-2, were identified in patients with focal segmental glomerulosclerosis and a dominant intermediate form of CMT (CMTDIE, OMIM #614455). We describe the pathologic lesions of nerve biopsies from 6 patients with...

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Identifiers

PMID: 24487800
DOI: 10.1097/NEN.0000000000000047

Genes

INF2

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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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Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.PMID 24487800Read ↗

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