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

doi:10.1212/WNL.0b013e31829a3421

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Article

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

Neurology - 9 Jul 2013

Nakhro Khriezhanuo, Park Jin-Mo, Hong Young Bin, Park Ji Hoon, Nam Soo Hyun, Yoon Bo Ram, Yoo Jeong Hyun, Koo Heasoo, Jung Sung-Chul, Kim Hyung-Lae, Kim Ji Yon, Choi Kyoung-Gyu, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

OBJECTIVE: To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family. METHODS: We enrolled 14 members of a Korean family in which 3 individuals had demyelinating CMT4B phenotype and obtained distal sural nerve biopsies from all affected participants. We conducted exome sequencing on 6 samples (3 affected and 3 unaffected individuals). RESULTS: One...

Topics

Adult
Charcot-Marie-Tooth Disease
Exome
Female
Genetic Carrier Screening
Genotype
Humans
Intracellular Signaling Peptides and Proteins
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Pedigree

Phenotype

Republic of Korea

Transcriptome

Young Adult

Source

Open in PubMed

Identifiers

PMID: 23749797
DOI: 10.1212/WNL.0b013e31829a3421

Genes

SBF1
SET

Provenance

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

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