Article
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
European journal of neurology - 1 Mar 2022
Estephan Eduardo P, Zambon Antonio A, Thompson Rachel, Polavarapu Kiran, Jomaa Danny, Töpf Ana, Helito Paulo V P, Heise Carlos O, Moreno Cristiane A M, Silva André M S, Kouyoumdjian Joao A, Morita Maria da Penha, Reed Umbertina C, Lochmüller Hanns, Zanoteli Edmar
Abstract excerpt
OBJECTIVES: To present phenotype features of a large cohort of congenital myasthenic syndromes (CMS) and correlate them with their molecular diagnosis. METHODS: Suspected CMS patients were divided into three groups: group A (limb, bulbar or axial weakness, with or without ocular impairment, and all the following: clinical fatigability, electrophysiology compatible with neuromuscular junction involvement and...
Topics
- Biopsy
- Cohort Studies
- Humans
- Muscle, Skeletal
- Mutation
- Myasthenic Syndromes, Congenital
- NAV1.4 Voltage-Gated Sodium Channel
- Phenotype