Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.
Charcot-Marie-Tooth disease
diagnosis
multiple ligation dependent probe amplification
neurogenetics
next-generation sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
17
03
2021
accepted:
17
06
2021
entrez:
6
8
2021
pubmed:
7
8
2021
medline:
7
8
2021
Statut:
epublish
Résumé
Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited motor sensory neuropathy, which clusters a clinically and genetically heterogeneous group of disorders with more than 90 genes associated with different phenotypes. The goal of this study is to identify the genetic features in the recruited cohort of patients, highlighting the role of rare variants in the genotype-phenotype correlation. We enrolled 67 patients and applied a diagnostic protocol including multiple ligation-dependent probe amplification for copy number variation (CNV) detection of
Identifiants
pubmed: 34354735
doi: 10.3389/fgene.2021.682050
pmc: PMC8329958
doi:
Banques de données
ClinicalTrials.gov
['NCT03084224']
Types de publication
Journal Article
Langues
eng
Pagination
682050Informations de copyright
Copyright © 2021 Ferese, Campopiano, Scala, D’Alessio, Storto, Buttari, Centonze, Logroscino, Zecca, Zampatti, Fornai, Cianci, Manfroi, Giardina, Magnani, Suppa, Novelli and Gambardella.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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