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Article

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

Journal of human genetics - 1 Feb 2015

Kim Sung Min, Lee Jinho, Yoon Bo Ram, Kim Ye Jin, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a genetically and clinically heterogeneous hereditary motor and sensory neuropathy signified by a distal symmetric polyneuropathy. The most frequent subtype is type 1A (CMT1A) caused by duplication in chromosome 17p12 that includes PMP22. This study reports a woman with a family history of CMT1A due to PMP22 duplication. However, she presented with a more severe phenotype than...

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Source

Identifiers

PMID: 25500726
DOI: 10.1038/jhg.2014.102

Genes

PMP22

Provenance

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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