We have performed genetic screening on the skeletal muscle chloride channel gene (CLCN1) in Taiwanese population. A total of four patients with myotonia congenita (MC) together with 106 normal individuals were examined. All 23 exons of the CLCN1 gene were analysed by direct sequencing of PCR products to detect the nucleotide changes. Five mutations and three polymorphisms were identified in this study. Among these, three missense mutations (S471F, P575S, D644G) and one polymorphism (T736I) are novel and could be unique to the Taiwanese. In addition, a previously documented recessive G482R mutation was identified in a heterozygous patient and his nonsymptomatic father, indicating that this mutation might indeed function recessively or dominantly with incomplete penetrance. In conclusion, this is the first report of MC in Taiwan with proven CLCN1 gene mutations and showing high molecular heterogeneity in Taiwanese MC patients.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00415-004-0383-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Real-world efficacy and safety of universal 8-week glecaprevir/pibrentasvir in patients with chronic hepatitis C with early chronic kidney disease or pre-end-stage renal disease: Insights from a nationwide hepatisis C virus registry in Taiwan.
Kaohsiung J Med Sci
January 2025
Hepatobiliary Division, Department of Internal Medicine and Hepatitis Center, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
An 8-week regimen of glecaprevir/pibrentasvir is recommended for treatment-naïve patients with chronic hepatitis C (CHC). In alignment with the Taiwanese government's objective to eliminate hepatitis C by 2025, this study aimed to provide real-world evidence on the use of this regimen in treatment-naïve patients with chronic kidney disease (CKD) by using data from the Taiwan Association for the Study of the Liver HCV Registry (TACR). CKD was defined by an estimated glomerular filtration rate (eGFR) of <60 mL/min/1.
View Article and Find Full Text PDFStatic Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients.
Mov Disord
January 2025
Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Background: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity in characterizing changes in pre-ataxic patients.
View Article and Find Full Text PDFCross-sectional survey on public attitudes and factors related to physician-assisted dying in Taiwan.
BMJ Open
January 2025
Graduate Institute of Medical Education and Bioethics, National Taiwan University College of Medicine, Taipei, Taiwan
Objective: To examine the public's stance on physician-assisted dying (PAD) in Taiwan across different PAD scenarios and identify demographic and psychosocial factors associated with the levels of support.
Design: Cross-sectional survey design. Independent variables included individual sociodemographic characteristics, healthcare professionals, perceived quality of life, formal caregiver experience, Patient Right to Autonomy Act (PRAA) awareness and advance care planning (ACP) preparedness.
Two-year clinical outcomes of Taiwanese and other Asian ethnicities with atrial fibrillation treated with edoxaban in the ETNA-AF Asia registry.
J Arrhythm
February 2025
Global Specialty Medical Affairs Daiichi Sankyo, Inc. New York City NewYork USA.
Background: The non-vitamin K oral anticoagulant (NOAC), edoxaban, is approved for stroke prevention in patients with atrial fibrillation (AF) in many Asian countries. Nonetheless, data on its long-term effectiveness and safety in routine clinical practice are limited in Taiwan.
Methods: The Global ETNA-AF (Edoxaban Treatment in routiNe clinical prActice) registry is an observational study that integrates data of AF patients receiving edoxaban from multiple regional registries.
Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.
NPJ Precis Oncol
January 2025
College of Medicine, Chang Gung University, Taoyuan, Taiwan, ROC.
Anaplastic thyroid carcinoma (ATC) is an aggressive cancer that requirements rapid diagnosis and multimodal treatment. Next-generation sequencing (NGS) aids in personalized therapies and improved trial enrollment. The role of liquid-based NGS in ATC remains unclear.
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!