Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.4103/0028-3886.378650 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Electrical storm in a patient with Charcot-Marie-Tooth disease treated with radiofrequency ablation and subsequent serious complication of implantable cardioverter defibrillator implantation: a case report.
Eur Heart J Case Rep
January 2025
Department of Internal Medicine and Cardiology, Faculty of Medicine, University Hospital Ostrava, University of Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic.
Background: Charcot-Marie-Tooth is the most common inherited neuromuscular disorder. Rarely, it can be associated with heart failure and various arrhythmic disturbances. This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease.
View Article and Find Full Text PDFWellbeing measurement among adults with Charcot-Marie-Tooth disease.
Health Care Transit
February 2024
Department of Psychological and Brain Sciences, Washington University in St. Louis, 1 Brookings Dr., St. Louis, MO 63130, United States.
Background And Aims: Wellbeing research among individuals with Charcot-Marie-Tooth disease (CMT) is limited. The goal of the current study is to characterize the challenges experienced by adults with CMT that researchers may miss by utilizing typical strategies to capture mental health and wellbeing.
Methods: In 2021, we recruited 288 US adults with CMT ( = 60 years, 59% Female, 93% White) to take part in an online survey.
Charcot-Marie-Tooth Disease Presenting in the Postpartum Period: A Case Report.
Cureus
December 2024
Clinical Neurophysiology, University Hospital of Wales, Cardiff, GBR.
Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy. It presents a wide range of genetic and phenotypic heterogeneity. CMT disease type 1A (CMT1A), caused by PMP22 gene duplication, represents the most common subtype of CMT in Western countries.
View Article and Find Full Text PDFNovel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.
Brain Dev
December 2024
Department of Medical Genetics Medical Faculty, Aksaray University, Aksaray, Turkiye.
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.
View Article and Find Full Text PDFCMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series.
Neuromuscul Disord
November 2024
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.
Axonal Charcot-Marie-Tooth disease (CMT2) and distal hereditary motor neuropathy (dHMN) are associated with a heterogeneous group of genes encoding proteins that are involved in axonal transport, control of RNA metabolism, mitochondrial dynamics and DNA repair. VRK1 (vaccinia-related kinase 1) is a serine/threonine kinase which is widely expressed in human tissue and plays a role in RNA maturation and processing and in DNA damage response. Variants of VRK1 have been associated with neurodevelopmental and neuromuscular disorders including pontocerebellar hypoplasia, motor neuron disorders and distal hereditary motor neuropathy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!