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Article

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.

International journal of molecular medicine - 1 Sept 2011

Choi Byung-Ok, Kim Sang-Beom, Kanwal Sumera, Hyun Young Se, Park Sun Wha, Koo Heasoo, Yoo Jeong Hyun, Hyun Jae Won, Park Kee Duk, Choi Kyoung-Gyu, Chung Ki Wha

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. The objective of this study was to find the causative mutation(s) in a demyelinating autosomal dominant CMT family. A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in the linkage disequilibrium region. Linkage analysis...

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Identifiers

PMID: 21503568
DOI: 10.3892/ijmm.2011.678

Genes

MPZ

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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