Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children

BACKGROUND: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. OBJECTIVE: The study aimed to describe the clinical and genetic spectrum of Myotonia conge...

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Detalles Bibliográficos
Autores principales: Öz Tunçer, Gökçen, Sanri, Aslıhan, Aydin, Seren, Hergüner, Özlem M., Özgün, Nezir, Kömür, Mustafa, İçağasioğlu, Dilara F., Toker, Rabia Tütüncü, Yilmaz, Sanem, Arslan, Elif Acar, Güngör, Mesut, Kutluk, Gültekin, Erol, İlknur, Mert, Gülen Gül, Polat, Burçin Gönüllü, Aksoy, Ayşe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578252/
https://www.ncbi.nlm.nih.gov/pubmed/37355912
http://dx.doi.org/10.3233/JND-230046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578252/
https://www.ncbi.nlm.nih.gov/pubmed/37355912
http://dx.doi.org/10.3233/JND-230046

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