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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Human molecular genetics - 1 Feb 2003

Senderek Jan, Bergmann Carsten, Weber Susanne, Ketelsen Uwe-Peter, Schorle Hubert, Rudnik-Schöneborn Sabine, Büttner Reinhard, Buchheim Eckhard, Zerres Klaus

Abstract excerpt

Autosomal recessive hereditary motor and sensory neuropathy or Charcot-Marie-Tooth disease (CMT) is a severe childhood-onset neuromuscular disorder. Autosomal recessive CMT is genetically heterogeneous with one locus mapped to chromosome 11p15 (CMT4B2). The histopathological hallmarks of CMT4B2 are focal outfoldings of myelin in nerve biopsies. Homozygosity mapping, in a Turkish inbred family with four children...

Topics

Charcot-Marie-Tooth Disease
DNA Mutational Analysis
Female
Gene Expression Profiling
Humans
Male
Mutation
Myelin Sheath
Pedigree
Protein Tyrosine Phosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Tyrosine Phosphatases, Non-Receptor

Source

Identifiers

PMID: 12554688
DOI: 10.1093/hmg/ddg030

Genes

SBF2
MTMR2
SET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.PMID 12554688Read ↗

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.Semantic proximity Read ↗

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

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.Semantic proximity Read ↗

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.Semantic proximity Read ↗

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.Semantic proximity Read ↗

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.Semantic proximity Read ↗

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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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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Semantic proximity Read ↗

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.Semantic proximity Read ↗

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