图4, 5 男, 37岁, 进行性双下肢无力 6年, 双上肢无力 3年。大腿横断面 T1WI平扫 (图 4) 股中间肌及股内外肌明显脂肪变, 股直肌、 缝匠肌、 股薄肌及半膜肌、 半腱肌和股二头肌脂肪变相对较轻。大腿横断面 STIR(图 5) 显示脂肪变明显的股中间肌及股内外...
摘要: 目的Dysferlin肌病是由位于2p13的DYS基因突变而引起的dysferlin蛋白结构和功能异常,从而导致肌细胞变性坏死的肌病.在临床上包括两种类型:常染色体隐性遗传的肢带型肌营养不良2B型(LGMD2B)和Miyoshi肌病(MM).MM早期主要累及小腿后部肌群如腓肠肌和比目鱼肌等远端肌群,病情逐渐进展可...
结论通过本研究发现该家系DYSF基因编码区第268位点和第3214位点发生C→T突变(c.268CT, c.3214CT),结合临床表型,该家系的患者诊断为Dysferlin肌病,为常染色体隐性遗传,2个突变点对该病在家系的发生均起到重要的作用。 展开 关键词:Dysferlin肌病 DYSF基因 杂合突变 DNA测序 ...
子痫前期患者妊娠结局较正常孕妇明显不良,且早发型子痫前期患者更明显.2 Dysferlin在对照组,试验组患者外周血血浆中均呈低表达,ELISA检测结果阴性.Affixin在试验组患者外周血血浆中的表达低于对照组.说明Dysferlin不可以作为子痫前期的生物标记物,Affixin可以作为生物标记物,为子痫前期预测提供依据.3 Dysferlin在各组的...
Dysferlin was the first identified member of a putative muscle-specific repair complex that permits rapid resealing of membranes disrupted by mechanical stress. Membrane resealing is a function conserved by most cells and is mediated by a mechanism closely resemb ... 展开 关键词:...
Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in ... W Lostal,M Bartoli,C Roudaut,... - 《Plos One》 被引量: 74发表: 2012年 Endocytic Recycling Proteins EHD1 and EHD2 Interact with...
目的探讨 dysferlinopathy 的临床、病理及分子病理特征。方法对45例临床病理诊断为肢带型肌营养不良(LGMD)和 Miyoshi 肌病(MM)患者的冰冻肌肉标本通过免疫组化染色(IHC)观察 dysfedin、α-肌聚糖和肌营养不良蛋白(dystrophin)的表达,进一步用 Western 印迹分析法(WB)测定肌肉组织中 dysfedin 含量。结果在39例 LGMD ...
Mutations in the gene encoding dysferlin cause limb-girdle muscular dystrophy 2B (LGMD2B), a disorder that is believed to spare the heart. We observed dilated cardiomyopathy in two out of seven LGMD2B patients and cardiac abnormalities in three others. Cardiac biopsies showed that dysferlin was co...
The protein, dysferlin, mediates sarcolemmal repair in vitro, implicating defective membrane repair in dysferlinopathies. To study the role of dysferlin in vivo, we assessed contractile function, sarcolemmal integrity, and myogenesis before and after injury from large-strain lengthening contractions in dy...
OBJECTIVE: Mutations in the dysferlin gene cause limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM), which are collectively named dysferlinopathy. Dysferlinopathy is the most frequent type of LGMD in the Japanese population. Molecular genetic analysis is essential for the diagnosis of...