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Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

Background: CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of MC patients in China. Patients and Methods:...

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Detalles Bibliográficos
Autores principales: Hu, Chaoping, Shi, Yiyun, Zhao, Lei, Zhou, Shuizhen, Li, Xihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8591224/
https://www.ncbi.nlm.nih.gov/pubmed/34790634
http://dx.doi.org/10.3389/fped.2021.759505