Congenital myasthenic syndromes (CMS) are genetically determined heterogenous disorders of neuromuscular transmission. We report a rare mutation of COLQ causing CMS in an Asian man that remarkably improved with fluoxetine. A 51-year-old Sri Lankan man with slowly progressive fatigable muscle weakness since eight years of age, presented with type 2 respiratory failure that required mechanical ventilation in the acute crisis and subsequent home-based non-invasive ventilation. His birth and family histories were unremarkable. On examination, he had limb girdle type of muscle weakness with fatigability and normal tendon reflexes with no ocular or bulbar involvement. DNA sequencing revealed a pathogenic homozygous mutation in COLQ gene: ENST00000383788.10:exon16:c.1228C>T:p.R410W, the first report in an Asian. Treatment with fluoxetine resulted in remarkable improvement and regain of muscle power and independence from assisted ventilation.

中文翻译：

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COLQ基因罕见突变导致先天性肌无力综合征，氟西汀显着改善：病例报告

先天性肌无力综合征 (CMS) 是由基因决定的神经肌肉传递的异质性疾病。我们报告了一种罕见的 COLQ 突变，该突变导致一名亚洲男性发生 CMS，氟西汀治疗后显着改善。一名 51 岁的斯里兰卡男子自 8 岁起出现缓慢进展的疲劳性肌肉无力，出现 2 型呼吸衰竭，在急性危象中需要机械通气，随后进行家庭无创通气。他的出生和家族史并不引人注目。检查时，他有肢带型肌无力，易疲劳，腱反射正常，无眼部或延髓受累。DNA 测序揭示了 COLQ 基因中的致病纯合突变：ENST00000383788.10:exon16:c.1228C>T:p.R410W，这是亚洲人的首次报道。