Nemaline myopathy
Nemaline myopathy
复制标题
线状肌病
DOI：
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
Nemaline Myopathy
中科院分区：
文献类型：
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作者：
Nemaline Myopathy
线状肌病是一种主要影响骨骼肌的疾病，骨骼肌是身体用于运动的肌肉。线状肌病患者全身肌肉无力(肌病)，但通常最严重的是面部、颈部、躯干的肌肉，以及靠近身体中心的其他肌肉(近端肌肉)，如上臂和腿的肌肉。随着时间的推移，这种疲软可能会恶化。受影响的个体可能会有进食和吞咽困难、足部畸形、脊柱异常弯曲(脊柱侧弯)和关节畸形(痉挛)。大多数患有线状肌病的人都能走路，尽管一些受影响的儿童可能比平时更晚开始走路。随着病情的发展，一些人可能需要轮椅辅助。在严重的情况下，用于呼吸的肌肉会受到影响，可能会出现危及生命的呼吸困难。
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.
影响因子：
3
作者：
Ottenheijm, Coen A. C.;Hooijman, Pleuni;DeChene, Elizabeth T.;Stienen, Ger J.;Beggs, Alan H.;Granzier, Henk
通讯作者：
Granzier, Henk