dystrophy相关论文
Bietti’s crystalline dystrophy in an African American patient: an unusual racial demographic for a c
Dear Editor,The study outlining the manifestations of Bietti’s crystalline dystrophy(BCD)in five Chinese patients offer......
Catalpol counteracts the pathology in a mouse model of Duchenne muscular dystrophy by inhibiting the
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease caused by a mutation in the gene encoding the d......
Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrop
BACKGROUND Congenital muscular dystrophy(CMD)is a clinically and genetically heterogeneous group of inherited muscle dis......
AIM:To reveal the importance of TGFBI gene screening for candidates with a family history of corneal disease or granular......
In this study,we presented a novel zebrafish mutantcas6,carrying recessive mutation in arfgap2 gene,exhibited severe......
Duchenne 肌肉发达的营养障碍(DMD ) 是为青春和孩子的致命的基因疾病。DMD 病人的 8 活体检视被决定并且证明膜绑定氮的氧化物 sy......
假肥大型肌营养不良为性连遗传疾病,主要影响儿童,表现为近端肌肉力弱,萎缩和腓肠肌肥大,合并关节挛缩、心肌损害。患儿12岁后生......
假性肥大型进行性肌营养不良(Duchenne muscular dystrophy,简称DMD)为X连锁隐性遗传,男性患病,女
Duchenne muscular dystrophy......
进行性肌营养不良症(progressive mu-scular dystrophy)属肌源性肌病,具有家族性和遗传性,属基因病范畴。仅侵犯横纹肌。多见假性......
进行性肌营养不良症(Progressive muscular dystrophy,PMD)是一组原发于肌肉组织的遗传性变性疾病,为进一步总结其临床特征,将我......
本文对49例进行性肌营养不良症(PMD)中的DMD、LG、FSH三型进行了血清CPK、LDH、GOT及GPT四种酶活性测定与分析。结果在PMD中的四种......
目的 探讨杜氏肌营养不良症 (Duchenne muscular dystrophy,DMD)的无创性产前基因诊断的可行性。方法 用不连续密度梯度离心方法......
Myotonic dystrophy type 1(DM1) is multisystem disease arising from mutant CTG expansion in the nontranslating region of ......
Ca~(2+)sparks are the elementary units of intracellular Ca~(2+)signaling in striated musclecells revealed as localized ......
AIM To investigate different etiologies and management of the rhabdomyolysis in children.METHODS Eight pediatric rhabdom......
Eteplirsen由美国Sarepta Therapeutics公司开发,用于治疗杜氏肌营养不良症(Duchenne muscular dystrophy,DMD),商品名为Exondys 5......
12岁的小男孩卢卡患有肌肉萎缩症,但这并不能阻挡他对生活的热情。一位来自斯洛文尼亚的摄影师通过自己独特的想象力为卢卡拍摄了......
Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patient
AIM: To analyze the CYP4V2 mutations in five unrelated Chinese patients with Bietti crystalline corneoretinal dystrophy(......
Graves’ disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like o......
Becker muscular dystrophy(BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac inv......
目的评估深板层角膜移植术治疗基质层角膜营养不良的临床效果。方法回顾性分析该院2012年1月至2018年12月收治的基质层角膜营养不......
她幼年梦想成为一名首席芭蕾舞演员,但无情的病魔早早令她举步维艰;她在痛苦中写下文字聊以慰藉,却意外地发现文字不仅能抚慰她的......
· AIM: To study macular features in patients with congenital nystagmus and to assess the utility of spectral-domain opt......
目的建立应用荧光原位杂交(fluorescent in situ hybridization,FISH)方法检查进行性假肥大性肌营养不良(Duchenne/Becker muscula......
本文报告先天性肌强直(MyC)5个家系14例和强直性肌营养不良(MyD)5个家系21例。前者男10例,女14例,年龄8～32岁。后者男17例,女4例,年......
Duchenne 型肌营养不良症是进行性肌营养不良症中较为常见的一种类型。它是Duchenne 1868年首次对此病(Duchennemuscular dystrop......
Duchenne肌营养不良(Duchenne mu-scular dystrophy简称DMD)是人类性(Ⅹ)连锁遗传性肌病中最常见者,主要为男性患病,女性遗传。Du......
Duchenne和Becker型肌营养不良(Duchenne and Becker Muscular Dystrophy,DMD/BMD)是儿童中最常见的性连锁隐性遗传性肌病,逆向遗......
1976年Chou首先在一慢性多发性肌炎病人的肌肉标本中发现Myxovirus样的构造,Yunis与Samaha在1971年首先以包涵体肌炎(inclusion b......
假性肥大型肌营养不良症(Ducherme muscu-lar dystrophy,DMD)是一种性联隐性遗传病,因此绝大多数患者为男性,有比较一致的临床表......
强直性肌营养不良症(myotonic dystrophy,DM)是一种常染色体显性遗传性神经肌肉疾病,发病率1/8000～1/20000,为最常见的累及成人的......
Benign congenital muscular dystrophy with autsomal dominant heredity of a pedigree is reported.The grandfather.
Benig......
反射性交感神经性营养不良(reflexsympathic dystrophy,RSD)是一种并发症甚至发生在很轻微外伤或肢体手术后。据报告,各种骨折后R......
Duchenne肌营养不良(Duchenne muscu-ler dystrophy DMD)是一种较常见的X连锁性致死性肌肉变性疾病,其发病率为1/3 500性活婴。DM......
Duchenne型肌营养不良症(Duchenne muscular dystrophy,DMD)是较常见的X性连锁隐性遗传病。在临床观察30例中,有家族史12例,现将......
除痛科(Pain Clinic)中癌性痛、带状疱疹后神经痛、幻肢痛被称为痛症中的三大顽症。后两者依其病理改变均属反射性交感神经萎缩症......
反射性交感神经萎缩症或反射性交感神经营养不良(Reflex sympathetic dystrophy,RSD),是疼痛诊疗科常见的疑难疾病之一。RSD患者......
Gene deletion and carrier detection in the family of Becker muscular dystrophy by short tandem repea
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ObjectiveTypehaplotypesamongthepatients, cariersandnormalofspringinafamilyofmaleswithBeckermusculardystrophyinonege......
进行性肌营养不良(Progressive muscular dystrophy)是一种x性连锁隐性遗传病,其主征为随意肌原发变性,逐渐进行,使病肌衰弱萎缩,......
目的 了解 Duchenne/Becher型肌营养不良症 (Duchenne/Becker muscular dystrophy,DMD/BMD)患者中央缺失热区 44～ 5 1内含子断裂点......
目的 研究Duchenne 型肌营养不良症(Duchenne muscular dystrophy,DMD)患者及其基因携带者红细胞膜蛋白颗粒的变化情况,探讨DMD的......
Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to......
Objective Tissue inhibitor of metalloproteinase-1(TIMP-1) is a multifunctional protein that has the capacity to modify c......
Objective To review the recent research progress in dystrophin-related muscular dystrophy includes X-linked hereditary D......
