Rare pathogenic variants in TOR1AIP1 (OMIM 614512), coding the inner nuclear membrane protein lamin-associated protein 1 (LAP1), have been associated with a spectrum of disorders including limb girdle muscular dystrophy with cardiac involvement and a severe multisystem phenotype. Recently, Cossins et al reported two siblings with limb girdle muscular dystrophy and impaired transmission of the neuromuscular synapse, demonstrating that defective LAP1 may lead to a congenital myasthenic syndrome. Herein, we describe the association of TOR1AIP1 deficiency with congenital myasthenic syndrome in three siblings.

中文翻译：

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与早发性肢带肌无力分离的 TOR1AIP1 变体——支持 LAP1 在 NMJ 功能和疾病中的作用

TOR1AIP1 (OMIM 614512)中罕见的致病变异，编码内核膜蛋白层粘连蛋白相关蛋白 1 (LAP1)，与一系列疾病有关，包括伴有心脏受累的肢带型肌营养不良症和严重的多系统表型。最近，Cossins 等报道了两个兄弟姐妹患有肢带型肌营养不良症和神经肌肉突触的传递受损，这表明 LAP1 缺陷可能导致先天性肌无力综合征。在这里，我们描述了三个兄弟姐妹中TOR1AIP1缺陷与先天性肌无力综合征的关联。