Identification of two novel compound heterozygous CLCN1 mutations associated with autosomal recessive myotonia congenita
Author:
Affiliation:
1. Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, China
2. Department of Geological Engineering, Shanxi Institute of Enegy, Taiyuan, China
Publisher
Informa UK Limited
Subject
Neurology (clinical),Neurology,General Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/01616412.2019.1672392
Reference22 articles.
1. Muscle channelopathies
2. Muscle Channelopathies
3. ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation
4. ClC-1 chloride channels: state-of-the-art research and future challenges
5. Chapter 2 Myotonia Congenita
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1. Clinical and genetic characteristics of myotonia congenita in Chinese population;Channels;2024-05-08
2. Exome sequencing identifies a novel pathogenic CLCN1 mutation in an Iranian family with Myotonia Congenita: A case report;Human Gene;2022-12
3. Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review;Channels;2022-02-16
4. Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients;Frontiers in Pediatrics;2021-11-01
5. An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies;Frontiers in Neurology;2020-01-17
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