Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
INTRODUCTION: Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion-channel activation. METHODS: Molecular genetic techniques, electrophysiology, and binding studies in human embryonic kidney (HEK) 293 cells determined mutant function and expression levels. Patient response to treatment was measured by quantitative myasthenic gravis and Medical Research Council grade strength scores. RESULTS: We report an unusual case due to h...Expand abstract
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