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Article

Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.

Neurogenetics - 1 Feb 2013

Choi B-O, Park M-H, Chung K W, Woo H-M, Koo H, Chung H-K, Choi K-G, Park K D, Lee H J, Hyun Y S, Koo S K

Abstract excerpt

The objective of the study was to investigate the disease-causing mutation in an autosomal dominant Charcot-Marie-Tooth disease type 2 family and examine the clinical and histopathological evaluation. We enrolled a family of Korean origin with axonal Charcot-Marie-Tooth disease neuropathy (FC305; 13 males, six females) and applied genome-wide linkage analysis. Whole exome sequencing was performed for two...

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Source

Identifiers

PMID: 23142943
DOI: 10.1007/s10048-012-0346-5

Genes

BSCL2

Variants

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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