Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

Y El Kadiri, I Ratbi, A Sefiani, J Lyahyai - BMC neurology, 2022 - Springer
Abstract Background Congenital myasthenic syndromes (CMSs) are rare genetic diseases
due to abnormalities of the neuromuscular junction leading to permanent or transient muscle …