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Article

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Nov 2016

Ichikawa Kazushi, Numasawa Keita, Takeshita Saoko, Hashiguchi Akihiro, Takashima Hiroshi

Abstract excerpt

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10-year-old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both...

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PMID: 27882734
DOI: 10.1111/ped.13152

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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