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Article

Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.

Gene expression patterns : GEP - 1 Oct 2006

Kirfel Jutta, Senderek Jan, Moser Markus, Röper Anke, Stendel Claudia, Bergmann Carsten, Zerres Klaus, Buettner Reinhard

Abstract excerpt

Autosomal recessive hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. The clinical picture includes progressive distal weakness and atrophy, foot deformities, and distal sensory loss. For autosomal recessive CMT type 4B2 one locus was mapped to chromosome 11p15. Recently, mutations in SET...

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Source

Identifiers

PMID: 16750429
DOI: 10.1016/j.modgep.2006.04.005

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.

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Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.PMID 16750429Read ↗

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