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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...

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Source

Identifiers

PMID: 23749797
DOI: 10.1212/WNL.0b013e31829a3421

Genes

SBF1
SET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.PMID 23749797Read ↗

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