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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Bibliographic Details
Published in:Neurol Genet
Main Authors: Azuma, Yoshiteru, Töpf, Ana, Evangelista, Teresinha, Lorenzoni, Paulo José, Roos, Andreas, Viana, Pedro, Inagaki, Hidehito, Kurahashi, Hiroki, Lochmüller, Hanns
Format: Artigo
Language:Inglês
Published: Wolters Kluwer 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5415388/
https://ncbi.nlm.nih.gov/pubmed/28508085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000152
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