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Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

Neuromuscular disorders : NMD - 1 Jun 2008

Gosselin Isabelle, Thiffault Isabelle, Tétreault Martine, Chau Vann, Dicaire Marie-Josée, Loisel Lina, Emond Monique, Senderek Jan, Mathieu Jean, Dupré Nicolas, Vanasse Michel, Puymirat Jack, Brais Bernard

Abstract excerpt

Charcot-Marie-Tooth polyneuropathies (CMT) are clinically and genetically heterogeneous. We describe a French-Canadian cluster of 17 recessive CMT cases belonging to 10 families with variable early-onset CMT and scoliosis. The patients demonstrate great intra- and inter-familial variability. Linkage analysis confirmed that all families are linked to CMT4C locus on chromosome 5q32 (multipoint LOD score of 9.06)....

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Identifiers

PMID: 18511281
DOI: 10.1016/j.nmd.2008.04.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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