A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report
A Vidanagamage, IK Gooneratne, S Nandasiri, K Gunaratne, A Fernando, S Maxwell, J Cossins, D Beeson, T Chang NMJ Disorders Neuromuscular Disorders 31(3):246-248 2021https://doi.org/10.1016/j.nmd.2020.12.002
A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
T Chang, J Cossins, D Beeson BMC Neurology 16: e195 2016https://doi.org/10.1186/s12883-016-0716-y
