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

PURPOSE OF REVIEW: 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 an...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy: Vanhaesebrouck, AE, Beeson, D
Format: Journal article
Język:English
Wydane: Wolters Kluwer Health 2019