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Article

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.

Annals of human genetics - 1 Nov 2015

Hyun Young Se, Lee Jinho, Kim Hye Jin, Hong Young Bin, Koo Heasoo, Smith Alec S T, Kim Deok-Ho, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating subtype of peripheral enuropathies caused by mutations in the FGD4 gene. Most CMT4H patients are in consanguineous Mediterranean families characterized by early onset and slow progression. We identified two CMT4H patients from a Korean CMT cohort, and performed a detailed genetic and clinical analysis in both cases. Both patients...

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Source

Identifiers

PMID: 26400421
DOI: 10.1111/ahg.12134

Genes

FGD4

Variants

Provenance

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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