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[SMC] Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine

Posté : 09 janv. 2022 12:00
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J Clin Neurosci. 2022 Jan 6;96:85-89. doi: 10.1016/j.jocn.2021.12.016. Online ahead of print.

ABSTRACT

The slow-channel congenital myasthenic syndrome is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor. Fluoxetine, a common antidepressant and long-lived open-channel blocker of acetylcholine receptor, has been reported to be beneficial in the slow-channel congenital myasthenic syndrome. Here we report a prospective open label study of fluoxetine treatment in some affected members of a Thai family with slow-channel congenital myasthenic syndrome caused by a novel p.Gly153Ala (c.518G > C) mutation in CHRNA1 in the AChR α subunit. These patients showed significant clinical improvement following fluoxetine treatment but their respiratory function responded variably.

PMID:34999496 | DOI:10.1016/j.jocn.2021.12.016


Source: https://pubmed.ncbi.nlm.nih.gov/3499949 ... 0&v=2.17.5