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The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies

Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. This review updates the reader on the expanding phenotypic spectrum and suggested improve...

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Библиографические подробности
Опубликовано в: :Curr Opin Neurol
Главные авторы: Vanhaesebrouck, An E., Beeson, David
Формат: Artigo
Язык:Inglês
Опубликовано: Lippincott Williams & Wilkins 2019
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6735524/
https://ncbi.nlm.nih.gov/pubmed/31361628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/WCO.0000000000000736
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