ArticleAnnals of clinical and translational neurology2019
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Pooled it
- Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease.Journal of neurology · 2026Article
- Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.Pediatric research · 2025Article
- Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.Iranian journal of public health · 2025Review
- Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.Arquivos de neuro-psiquiatria · 2025Article
- Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.BMC neurology · 2024Article
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- Plasma membrane abundance dictates phagocytic capacity and functional cross-talk in myeloid cells.Science immunology · 2024Article
- Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.Journal of neuromuscular diseases · 2024Article
- A Novel ENU-InducedBiology · 2023Article
- Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients.Frontiers in genetics · 2023Article
- Dominant aminoacyl-tRNA synthetase disorders: lessons learned fromFrontiers in neuroscience · 2023Review
- Novel mutation in theThe Journal of international medical research · 2022Article
- Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.Neurology. Genetics · 2022Article
- Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.Genes · 2022Article
- Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.Biomedicines · 2022Article
- Article
- Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.Molecular genetics & genomic medicine · 2022Article
- Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A.International journal of molecular sciences · 2021Article
- Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveCharcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of inherited neuropathies. Mutations in more than 90 genes have been implicated in CMT; however, the mutational spectrum of CMT in Chinese population remains obscure. This study aims to provide a comprehensive overview of the frequency of mutations in Taiwanese patients with CMT and look for genotype-phenotype correlations.
methodsMutational analyses were performed on 427 unrelated Taiwanese patients with CMT by polymorphic microsatellite markers analysis or real-time fluorescent PCR for
resultsPathogenic mutations were identified in 312 patients (73.1%; 312/427), including 208 patients with a
interpretationThis study provides a genotype-phenotype landscape of CMT in Taiwan and highlights the unique spectrum of CMT genes frequencies among patients of Chinese origin.
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Registered trials
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