MYASTHENIA & RELATED DISORDERS: P.31 Identification of new recessive mutations in synaptotagmin-2 responsible for severe and early presynaptic forms of congenital myasthenic syndrome

Abstract

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of inherited disorders caused by defective synaptic transmission at the neuromuscular junction (NMJ) and characterized by fluctuation of muscle weakness and fatigability. Recently, many mutations encoding presynaptic proteins have been identified as responsible for increasingly complex CMS phenotypes of CMS. Among them, the autosomal dominant mutations in Synaptotagmin2 (SYT2) C2B domain that have been linked to described as responsible for presynaptic CMS combined to Lambert-Eaton myasthenic syndromes and motor neuropathy forms.