...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Biochimica et biophysica acta. Molecular basis of disease: BBA >Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation
【24h】

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

机译：由POMT1突变引起的Walker-Warburg综合征患者的骨骼肌细胞外基质和核异常

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities and severe brain malformations. We performed an immunohistochemical and electron microscopy study of a muscle biopsy from a patient affected by WWS carrying a homozygous frameshift mutation in O-mannosyltransferase I gene (POMT1). α-Dystroglycan glycosylated epitope was not detected in muscle fibers and intramuscular peripheral nerves. Laminin α2 chain and perlecan were reduced in muscle fibers and well preserved in intramuscular peripheral nerves. The basal lamina in several muscle fibers showed were reduced in muscle fibers and well preserved in intramuscular peripheral nerves. The basal Lamina in several muscle fibers showed discontinuities and detachment from the plasmalemma. Most nuclei, including myonuclei and satellite cell nuclei showed detachment or complete absence of peripheral heterochromatin from the nuclear envelope. Apoptotic changes were detected in 3% of muscle fibers. The particular combination of basal lamina and nuclear changes may suggest that a complex pathogenetic mechanism, affecting several subcellular compartments, underlies the degenerative process in WWS reserved.
机译：Walker-Warburg综合征（WWS）是一种常染色体隐性遗传疾病，其特征为先天性肌营养不良，眼睛结构异常和严重的脑畸形。我们对患有WWS的患者进行了肌肉活检的免疫组织化学和电子显微镜研究，该患者在O-甘露糖基转移酶I基因（POMT1）中携带纯合移码突变。在肌纤维和肌内周围神经中未检测到α-Dystroglycan糖基化的表位。层粘连蛋白α2链和perlecan在肌肉纤维中减少，在肌肉内周围神经中保存良好。几条肌纤维中的基底层显示肌纤维减少并在肌内周围神经中保存良好。几条肌纤维中的基底层显示出不连续和脱离浆膜。包括肌核和卫星细胞核在内的大多数核显示出核包膜脱离或完全不存在外周异染色质。在3％的肌纤维中检测到凋亡变化。基底层和核变化的特定组合可能表明，影响几个亚细胞区室的复杂的致病机制是保留的WWS退化过程的基础。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号