当前位置: X-MOL 学术J. Peripher. Nerv. Syst. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
Journal of the Peripheral Nervous System ( IF 3.9 ) Pub Date : 2021-03-28 , DOI: 10.1111/jns.12441


In Fionda et al.,1 Figure 1 erroneously included only one part of the image. The correct and complete figure image is shown below.

image
FIGURE 1
Open in figure viewerPowerPoint
The p.(Asp361_Leu365del) deletion eliminates two of the calcium ligands in synaptotagmin-2 (SYT2) C2B domain and causes distal weakness and foot deformities. A, The patient needed surgery for correction of pes cavus and foot deformities during early childhood. However, no relevant lower limb distal wasting in anterolateral compartment at the age of 30. B, Hematoxylin and Eosin staining of the muscle biopsy of gastrocnemius muscle showed fiber size variability, internal nuclei, and mild changes suggestive of a neurogenic process such as scattered angulated fibers and nuclear clumps (Objective 20x). C, 3D model of the human SYT2 C2B domain (residues Glu269-Gly416, marked as N-t and C-t, respectively), shown as a forest green-colored cartoon, with beta-strands as arrows and alpha helices as ribbons. The side chains of aspartate and glutamate residues that coordinate Ca2+ ions -represented as light orange spheres- are shown with all their non-hydrogen atoms, color-coded (carbon, green; nitrogen, blue; oxygen, red). The side chain of residue Ile371 is also shown and labeled. A bound phosphoserine molecule (SEP) that marks the position of the vesicle membrane is also given color-coded (carbon, yellow; phosphor, orange)

We apologize for this error.



中文翻译:

一种新的新的 SYT2 突变,表现为远端无力。神经病变或神经肌肉接头功能障碍?

在 Fionda人中,1图 1 错误地只包含了图像的一部分。正确且完整的图形图像如下所示。

图像
图1
在图形查看器中打开微软幻灯片软件
p.(Asp361_Leu365del) 缺失消除了突触结合蛋白-2 (SYT2) C2B 域中的两个钙配体,并导致远端无力和足部畸形。A,患者在儿童早期需要手术矫正 pes cavus 和足部畸形。然而,在 30 岁时,前外侧隔室中没有相关的下肢远端消瘦。 B,腓肠肌肌肉活检的苏木精和伊红染色显示纤维大小可变性、内核和暗示神经源性过程的轻微变化,例如散在的成角纤维和核团块(目标 20x)。C,人类 SYT2 C2B 域(残基 Glu269-Gly416,分别标记为 Nt 和 Ct)的 3D 模型,显示为森林绿色卡通,β 链为箭头,α 螺旋为丝带。协调 Ca2+ 离子的天冬氨酸和谷氨酸残基的侧链 - 表示为浅橙色球体 - 与其所有非氢原子一起显示,颜色编码(碳,绿色;氮,蓝色;氧,红色)。还显示并标记了残基 Ile371 的侧链。标记囊泡膜位置的结合磷酸丝氨酸分子 (SEP) 也用颜色编码(碳,黄色;磷,橙色)

对于这个错误,我们深表歉意。

更新日期:2021-03-28
down
wechat
bug