Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations
Abstract Background Myotonia congenita (MC) is mainly caused by variants in the CLCN1 Gene, which is characterized by having difficulty in relaxing the muscle after active contraction, known as myotonia. This study aims to investigate the clinical characteristics and gene mutations of myotonia conge...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-06-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13052-025-02028-1 |
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