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Chloride Channel Mutations Leading to Congenital Myotonia

Congenital myotonia is a non-dystrophic musculoskeletal disease that causes abnormal muscle relaxation. The prevalence of congenital disorders is notably high in Iran, emphasizing the importance of genetic assessment in suspicious cases. In this study, we aim to report cases with the chloride channe...

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Detalles Bibliográficos
Autores principales: Nik, Amir, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Boostani, Reza, Ghayoor Karimiani, Ehsan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759411/
https://www.ncbi.nlm.nih.gov/pubmed/36540316
http://dx.doi.org/10.7759/cureus.32649