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Article

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.

Neurology - 10 Aug 2004

Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel C F, Lupski J R, Osame M, Arimura K

Abstract excerpt

The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates...

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Source

Identifiers

PMID: 15304601
DOI: 10.1212/01.wnl.0000133211.40288.9a

Genes

SBF2
SET

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.

Related research

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SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.PMID 15304601Read ↗

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Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.Semantic proximity Read ↗

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.Semantic proximity Read ↗

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