【摘 要】
：
Desmin is a cytoskeletal protein which forms the intermediate filament network in muscle cells.Mutations in DES, encoding desmin would clinically cause variable
【机 构】
：
DepartmentofPediatrics,KaohsiungMedicalUniversityHospital,KaohsiungMedicalUniversity;DepartmentofPed
【出 处】
：
The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie
论文部分内容阅读
Desmin is a cytoskeletal protein which forms the intermediate filament network in muscle cells.Mutations in DES, encoding desmin would clinically cause variable severity of muscle weakness,cardiomyopathy and probable peripheral neuropathy.However, wide variety of clinical manifestations has been well documented in desminopathy.Pathologically, desminopathy is characterized by the disorganization of the myofibrillar alignment associated with the intracellular accumulation of Z-disk-associated proteins, categorized as myofibrillar myopathy (MFM).Most MFM are disorders of autosomal-dominant inheritance, including desminopathy.
其他文献
Aneuploidy has been documented as the primary cause of fetal wastage and congenital birth defects.Most aneuploidy is derived from errors in maternal meiosis I.M
目的 对丁香醛类化合物(丁香酸、丁香醇)及二者混合物(M1)进行体外细胞实验,比较丁香醛类化合物对细胞的辐射损伤防护作用.方法 通过MTT法检测丁香醛类化合物对小鼠胚胎
三甲基氯化锡(TMT)是甲基硫醇锡热稳定剂合成过程中产生的一种剧毒物质，遇热易挥发，具有脂水两溶性，可经呼吸道、消化道、皮肤进入人体引起中毒事故的发生.目前全球已发生TM
组蛋白是一类重要的核蛋白,与DNA共同构成核小体,是染色质的基本构成单位.组蛋白N末端突出于核小体之外,可以形成多种类型的修饰.这些修饰通过改变染色质的构象,对细胞的
Idiopathic inflammatory myopathy (IIM) refers to the immune mediated myopathies associated with inflammatory cellular infiltrates in skeletal muscle tissue, and
我国是世界上最大的畜禽生产和产品消费大国,2011年肉、蛋、奶和水产品产量分别达到7957.8万吨、2811.4万吨、3810.7万吨和5603.2万吨(2012中国统计年鉴).动物源性产品的
Sporadic inclusion-body myositis (s-IBM)is a rare muscle disease in Asia population.The main clinical symptoms are characterized by a chronic progressive muscle
Background The length of the CTG-repeat expansion correlates with disease severity in myotonic dystrophy type 1 (DM1), although the individual variability is hi
Introduction Myosin storage myopathy is a rare congenital myopathy characterized by subsarcolemmal hyaline bodies (HB) in type 1 muscle fibres, due to mutation
Pompe disease (PD) is an autosomal recessive lysosomal storage disease caused by deficient acid α-glucosidase (GAA) activity, which results in progressive, deb