Clinical and genetic characteristics of myotonia congenita in Chinese population
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 ou...
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| Автори: | , , , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Taylor & Francis Group
2024-12-01
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| Серія: | Channels |
| Предмети: | |
| Онлайн доступ: | https://www.tandfonline.com/doi/10.1080/19336950.2024.2349823 |
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