CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1. According to the pattern of inheritance, two distinct clinica...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Orsini, Chiara, Petillo, Roberta, D'Ambrosio, Paola, Ergoli, Manuela, Picillo, Esther, Scutifero, Marianna, Passamano, Luigia, De Luca, Alessandro, Politano, Luisa
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Neurology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7016095/
https://ncbi.nlm.nih.gov/pubmed/32117024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.00063
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