ArticleAnnals of Indian Academy of Neurology2014
Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease.
Article in Annals of Indian Academy of Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance.Current gene therapy · 2026Review
- Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.BMC neurology · 2021Article
- Whole exome sequencing revealed a novel dystrophin-related protein-2 (Iranian journal of basic medical sciences · 2019Article
- Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.International journal of molecular and cellular medicine · 2019Article
- Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.Oncotarget · 2016Article
- Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.BMC medical genetics · 2015Article
- empowering the neurogenetic testing services in developing countries: use the basic skills with speed and scale.Annals of neurosciences · 2015Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over 70 different Charcot-Marie-Tooth disease (CMT)-associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient. Next-generation sequencing (NGS) technology allows cost-effective sequencing of large scale DNA, even entire exome (coding sequences) or whole genome and thus, NGS platform can be employed to effectively target a large number or all CMT-related genes for accurate diagnosis. This overview discusses how NGS can be strategically used for genetic diagnosis in patients with CMT or unexplained neuropathy. A comment is made to combine simple clinical and electrophysiological algorithm to assign patients to major CMT subtypes and then employ NGS to screen for all known mutations in the subtype-specific CMT gene panel.
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Registered trials
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