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Article

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

Journal of the peripheral nervous system : JPNS - 1 Mar 2012

Yger Marion, Stojkovic Tanya, Tardieu Sandrine, Maisonobe Thierry, Brice Alexis, Echaniz-Laguna Andoni, Alembik Yves, Girard Samantha, Cazeneuve Cécile, Leguern Eric, Dubourg Odile

Abstract excerpt

To describe the clinical and electrophysiological features evoking CMT4C, an autosomal recessive (AR) form of Charcot-Marie-Tooth disease (CMT) due to mutations in the SH3TC2 gene, we screened the coding sequence of SH3TC2 gene in 102 unrelated patients with a demyelinating or intermediate CMT and a family history compatible with an AR transmission. We identified among this cohort 16 patients carrying two...

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Identifiers

PMID: 22462672
DOI: 10.1111/j.1529-8027.2012.00382.x

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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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