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Article

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Human molecular genetics - 15 Feb 2001

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman D L, Brophy P J, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies characterized by chronic distal weakness with progressive muscular atrophy and sensory loss in the distal extremities. Inheritance can be autosomal dominant, X-linked or autosomal recessive (ARCMT). Recently, a locus responsible for a demyelinating form of ARCMT disease, named CMT4F, has been mapped...

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PMID: 11157804
DOI: 10.1093/hmg/10.4.415

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PRX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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