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Article

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Neurology - 17 Feb 2009

Houlden Henry, Hammans Simon, Katifi Haider, Reilly Mary M

Abstract excerpt

BACKGROUND: Charcot Marie Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies. CMT4H is an early onset autosomal recessive demyelinating neuropathy. The locus responsible for CMT4H was assigned to chromosome 12p11.21-q13.11 by homozygosity mapping and mutations in the Frabin gene (FGD4 Rho GDP/GTP exchange factor) were subsequently identified in six families....

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Source

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Identifiers

PMID: 19221294
DOI: 10.1212/01.wnl.0000342463.35089.cc
PMCID: PMC2677538

Genes

FGD4

Variants

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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