IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit
IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit
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DOI：
10.1016/j.nmd.2005.07.009
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发表时间：
2005-11-01
影响因子：
2.8
通讯作者：
Engel, AG
中科院分区：
文献类型：
--
作者：
Fidzianska, A;Ryniewicz, B;Engel, AG
我们报告了一名患有慢通道先天性肌无力综合征的患者，该患者在乙酰胆碱受体的 E 亚基中携带一种新的慢通道突变，并且在遗传性和散发性包涵体肌炎中观察到的骨骼肌中具有管丝状包涵体。对 9 岁时获得的肌肉样本进行超微结构分析显示，存在慢通道综合征典型的终板肌病。二十年后，第二个肌肉标本再次显示终板肌病以及大量核和细胞质管丝包涵体。分子遗传学研究揭示了乙酰胆碱受体 M2 结构域中的新型缬氨酸至苯丙氨酸突变 (epsilon V259F)。以前从未观察到慢通道综合症与 IBM 特征的共存。 (C) 2005 Elsevier B.V. 保留所有权利。
We report a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation in the E subunit of the acetylcholine receptor and has tubulofilamentous inclusion bodies, in skeletal muscle of the type observed in hereditary and sporadic inclusion body myositis. Ultrastructural analysis of a muscle specimen obtained at the age of 9 years showed an endplate myopathy typical of the slow-channel syndrome. Twenty years later, a second muscle specimen again showed the endplate myopathy as well numerous nuclear and cytoplasmic tubulofilamentous inclusion bodies. Molecular genetic studies revealed a novel valine to phenylalanine mutation (epsilon V259F) in the M2 domain of the acetylcholine receptor. Coexistence of the slow-channel syndrome with a feature of IBM has not been observed before. (C) 2005 Elsevier B.V. All rights reserved.