A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: a case report

Congenital myasthenic syndromes (CMS) are a heterogenous group of disorders of neuromuscular transmission that arise from defective genes that code for, or modify, structural and functional proteins of the pre-synaptic, synaptic or post-synaptic membranes of the neuromuscular junction [1-3].

https://www.nmd-journal.com/article/S0960-8966(20)30696-9/fulltext?rss=yes

Source: Neuromuscular Disorders - December 11, 2020 Category: Neurology Authors: Anomali Vidanagamage, Inuka Kishara Gooneratne, Shanika Nandasiri, Kamal Gunaratne, Arjuna Fernando, Susan Maxwell, Judith Cossins, David Beeson, Thashi Chang Tags: Case report Source Type: research