Academic Journal
Clinical and genetic characteristics of myotonia congenita in Chinese population
| العنوان: | Clinical and genetic characteristics of myotonia congenita in Chinese population |
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| المؤلفون: | Yuting He, Yusen Qiu, Ying Xiong, Yu Shen, Kaiyan Jiang, Hancun Yi, Pengcheng Huang, Yu Zhu, Min Zhu, Meihong Zhou, Daojun Hong, Dandan Tan |
| المصدر: | Channels, Vol 18, Iss 1 (2024) |
| بيانات النشر: | Taylor & Francis Group, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Therapeutics. Pharmacology LCC:Physiology |
| مصطلحات موضوعية: | Myotonic congenital, CLCN1, Thomsen MC, Becker MC, skeletal muscle channelopathies, Therapeutics. Pharmacology, RM1-950, Physiology, QP1-981 |
| الوصف: | Myotonia congenita (MC) is a rare hereditary muscle disease caused by variants in the CLCN1 gene. Currently, the correlation of phenotype-genotype is still uncertain between dominant-type Thomsen (TMC) and recessive-type Becker (BMC). The clinical data and auxiliary examinations of MC patients in our clinic were retrospectively collected. Electromyography was performed in 11 patients and available family members. Whole exome sequencing was conducted in all patients. The clinical and laboratory data of Chinese MC patients reported from June 2004 to December 2022 were reviewed. A total of 11 MC patients were included in the study, with a mean onset age of 12.64 ± 2.73 years. The main symptom was muscle stiffness of limbs. Warm-up phenomenon and percussion myotonia were found in all patients. Electromyogram revealed significant myotonic charges in all patients and two asymptomatic carriers, while muscle MRI and biopsy showed normal or nonspecific changes. Fourteen genetic variants including 6 novel variants were found in CLCN1. Ninety-eight Chinese patients were re-analyzed and re-summarized in this study. There were no significant differences in the demographic data, clinical characteristics, and laboratory findings between 52 TMC and 46 BMC patients. Among the 145 variants in CLCN1, some variants, including the most common variant c.892 G>A, could cause TMC in some families and BMC in others. This study expanded the clinical and genetic spectrum of Chinese patients with MC. It was difficult to distinguish between TMC and BMC only based on the clinical, laboratory, and genetic characteristics. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 19336950 1933-6969 1933-6950 |
| Relation: | https://doaj.org/toc/1933-6950; https://doaj.org/toc/1933-6969 |
| DOI: | 10.1080/19336950.2024.2349823 |
| URL الوصول: | https://doaj.org/article/8d4bfe67e8434e0da195a528d7946fad |
| رقم الانضمام: | edsdoj.8d4bfe67e8434e0da195a528d7946fad |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 19336950 19336969 |
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| DOI: | 10.1080/19336950.2024.2349823 |