A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Her...

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Publicat a:J Neurol
Autors principals: de Paula Estephan, Eduardo, da Rosa Sobreira, Cláudia Ferreira, dos Santos, André Clériston José, Tomaselli, Pedro José, Marques, Wilson, Ortega, Roberta Paiva Magalhães, Costa, Marcela Câmara Machado, da Silva, André Macedo Serafim, Mendonça, Rodrigo Holanda, Marques Caldas, Vitor, Zambon, Antonio Alberto, Abath-Lopes, Osório, Marchiori, Paulo Eurípedes, Heise, Carlos Otto, Reed, Umbertina Conti, Azuma, Yoshitero, Töpf, Ana, Lochmüller, Hanns, Zanoteli, Edmar
Format: Artigo
Idioma:Inglês
Publicat: 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7115868/
https://ncbi.nlm.nih.gov/pubmed/29383513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-018-8736-8
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