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Article

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.

Journal of the peripheral nervous system : JPNS - 1 Mar 2016

Kennerson Marina L, Kim Eun J, Siddell Anna, Kidambi Aditi, Kim Sung M, Hong Young B, Hwang Sun H, Chung Ki W, Choi Byung-Ok

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene have been found to cause X-linked dominant CMT type 6 (CMTX6). This study identified the p.R158H PDK3 mutation after screening 67 probable X-linked CMT families. The mutation fully segregated with the phenotype, and genotyping the family indicated the...

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Identifiers

PMID: 26801680
DOI: 10.1111/jns.12160

Genes

PDK3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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