ArticleJournal of neuromuscular diseases
Genetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study.
Article in Journal of neuromuscular diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease.Journal of neurology · 2026Article
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Authors and funding
5 authors.
Funding
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Abstract
backgroundIn many developing regions, genetic data on Charcot-Marie-Tooth disease (CMT) remains scarce.
objectiveThis study aimed to investigate the genetic landscape of CMT in Vietnam to guide the development of cost-effective diagnostic algorithms for patients with suspected genetic neuropathies.
methodsWe recruited 44 patients with a diagnosis of CMT from three tertiary centers between March 2021 and December 2023 and recorded their clinical and electrophysiological characteristics. All patients were analyzed for duplications or deletions of
resultsAmong 44 patients, 24 carried a total of 26 variants. Of these 26 variants, 15 were (57.7%) pathogenic, 6 (23.1%) were likely pathogenic, and 5 (19.2%) were variants of uncertain significance (VUS). Excluding the VUS, the diagnostic yield of the targeted sequencing was 43.2% (19/44). Through MLPA,
conclusionsWe propose a sequential genetic testing approach for CMT in resource-limited settings, with the initial testing via MLPA for demyelinating CMT, followed by NGS for those who test negative. Our findings broaden the CMT genotype-phenotype profile of the Vietnamese population by identifying six novel candidate variants.
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