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Article

Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.

International journal of molecular sciences - 5 Apr 2017

Ho Chi-Chun, Tai Shuk-Mui, Lee Edmond Chi-Nam, Mak Timothy Shin-Heng, Liu Timothy Kam-Tim, Tang Victor Wai-Lun, Poon Wing-Tat

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relative prevalence and clinical phenotyping are limited by long turnaround time, population-specific prevalence of causative variants and inability to assess multiple...

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Identifiers

PMID: 28379183
DOI: 10.3390/ijms18040770
PMCID: PMC5412354

Genes

GDAP1
HSPB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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