Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2016.11.014
Abstract: 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.… read more here.
Keywords: congenital myasthenic; identified kinships; myasthenic syndrome; syndrome israel ... See more keywords
Vici syndrome in Israel: Clinical and molecular insights
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.991721
Abstract: Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum, hair and skin hypopigmentation, bilateral cataract,… read more here.
Keywords: vici syndrome; syndrome israel; molecular insights; clinical molecular ... See more keywords