Ontology highlight
ABSTRACT:
SUBMITTER: Aharoni S
PROVIDER: S-EPMC5280189 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Aharoni Sharon S Sadeh Menachem M Shapira Yehuda Y Edvardson Simon S Daana Muhannad M Dor-Wollman Talia T Mimouni-Bloch Aviva A Halevy Ayelet A Cohen Rony R Sagie Liora L Argov Zohar Z Rabie Malcolm M Spiegel Ronen R Chervinsky Ilana I Orenstein Naama N Engel Andrew G AG Nevo Yoram Y
Neuromuscular disorders : NMD 20161124 2
The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes f ...[more]