Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

OBJECTIVE: To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS). METHODS: Candidate gene screening and WGS analysis were performed in the case. Allele-specific P...

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Detalles Bibliográficos
Autores principales: Azuma, Yoshiteru, Töpf, Ana, Evangelista, Teresinha, Lorenzoni, Paulo José, Roos, Andreas, Viana, Pedro, Inagaki, Hidehito, Kurahashi, Hiroki, Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415388/
https://www.ncbi.nlm.nih.gov/pubmed/28508085
http://dx.doi.org/10.1212/NXG.0000000000000152

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415388/
https://www.ncbi.nlm.nih.gov/pubmed/28508085
http://dx.doi.org/10.1212/NXG.0000000000000152

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