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Article

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

BMC medical genetics - 5 Dec 2013

Hong Young Bin, Lee Ja Hyun, Park Jin-Mo, Choi Yu-Ri, Hyun Young Se, Yoon Bo Ram, Yoo Jeong Hyun, Koo Heasoo, Jung Sung-Chul, Chung Ki Wha, Choi Byung-Ok

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder of the peripheral nervous system. So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB) gene exhibit three distinctive phenotypes: sever...

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Source

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Identifiers

PMID: 24314034
DOI: 10.1186/1471-2350-14-125
PMCID: PMC4029087

Genes

HADHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24314034-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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