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Article

Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve.

Journal of Korean medical science - 1 Aug 2009

Kwon Joo Young, Chung Ki Wha, Park Eun Kyung, Park Sun Wha, Choi Byung-Ok

Abstract excerpt

We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosome 17p11.2-p12...

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Source

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Identifiers

PMID: 19654968
DOI: 10.3346/jkms.2009.24.4.763
PMCID: PMC2719205

Genes

PMP22

Provenance

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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