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Article

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.

Neuromuscular disorders : NMD - 1 Apr 2009

Houlden Henry, Laura Matilde, Ginsberg Lionel, Jungbluth Heinz, Robb Stephanie A, Blake Julian, Robinson Susan, King Rosalind H M, Reilly Mary M

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies. The locus responsible for CMT4C was previously assigned to the chromosome 5q23 region by homozygosity mapping and mutations in the SH3TC2 (KIAA1985) gene have been subsequently identified mainly in families around the Mediterranean basin but also frequently in European Gypsies. No English families...

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Identifiers

PMID: 19272779
DOI: 10.1016/j.nmd.2009.01.006

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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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