A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres
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DOI：
10.1016/j.nmd.2015.01.001
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发表时间：
2015-04-01
影响因子：
2.8
通讯作者：
Oldfors, Anders
中科院分区：
文献类型：
--
作者：
Casar-Borota, Olivera;Jacobsson, Johan;Oldfors, Anders
核集中化和内化，肌浆辐射股和1型肌纤维优势和萎缩性肌钙蛋白-2（DNM 2）相关的中枢性肌病，而项链纤维通常见于迟发性肌微管蛋白-1（MTM 1）相关myopathy.We报告一名妇女的单侧症状可能与臂丛神经炎。肌电图显示局部神经性和全身性肌病异常。在肌肉活检中发现了具有额外项链纤维的DNM 2中枢性肌病的典型特征。DNM 2和MTM 1基因的测序揭示了DNM 2的外显子18中的新杂合错义突变，导致高度保守的脯氨酸在位置647处被精氨酸取代。在3年的随访中，肌肉症状没有进展。然而，该患者已发展为双侧微妙的透镜混浊。我们的研究结果支持了项链纤维可能偶尔在DNM 2相关性肌病中发现的概念，可能表明DNM 2和MTM 1相关性中枢性肌病的共同致病机制。(C)2015 Elsevier B. V.版权所有。
Nuclear centralisation and internalisation, sarcoplasmic radiating strands and type 1 muscle fibre predominance and hypotrophy characterise dynamin-2 (DNM2) associated centronuclear myopathy, whereas necklace fibres are typically seen in late onset myotubularin-1 (MTM1)-related myopathy.We report a woman with unilateral symptoms probably related to brachial plexus neuritis. Electromyography revealed localised neuropathic and generalised myopathic abnormalities. The typical features of DNM2 centronuclear myopathy with additional necklace fibres were found in the muscle biopsy. Sequencing of the DNM2 and MTM1 genes revealed a novel heterozygous missense mutation in exon 18 of the DNM2, leading to replacement of highly conserved proline at position 647 by arginine. The muscle symptoms have not progressed during the 3-year follow-up. However, the patient has developed bilateral subtle lens opacities.Our findings support the concept that necklace fibres may occasionally be found in DNM2-related myopathy, possibly indicating a common pathogenic mechanism in DNM2 and MTM1 associated centronuclear myopathy. (C) 2015 Elsevier B.V. All rights reserved.