Duchenne肌营养不良(Duchenne muscular dystrophy, DMD)是最常见的X连锁先天性肌病,发病率约1/3800~1/6000(活产男婴)。DMD患儿出生时无症状,因此早期诊断困难,患者常在 3～5岁时出现运动迟缓、步态异常、站立困难等症状,约12岁时就需要依赖轮椅出行,20岁左右可能因心肺功...
Matsuo M.Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy. International Union of Biochemistry and Molecular Biology Life . 2002Matsuo M.Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy. International Union of Biochemistry and Molecular ...
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Li X, Zhao L, Zhou S,et al.A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China[J]. Orphanet Journal of Rare Diseases, 2015, 10: 5. Bushby K, Finkel R, Birnkrant DJ,et al.Diagnosis and management of Duchenne muscular dystrophy, ...
Preimplantation genetic diagnosis of Duchenne muscular dystrophy by single cell triplex PCR; 运用单细胞三重PCR对杜氏肌营养不良进行植入前遗传学诊断 2. Duchenne muscular dystrophy(DMD)or a carrier with DMD symptoms can be ruled out. 4Kb片段 ,CK2 6 5U /L ,是杜氏肌营养不良症(DMD)致病基因携带...
J. et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 17, 347–361 (2018). Part 2 of a three-part standard-of-care document for DMD. Article PubMed PubMed Central Google Scholar Birnkrant, ...
Diagnosis and management of Duchenne muscular dystrophy, part 1:diagnosis, and pharmacological and psychosocial management. Lancet Neurol, 2010, 9(1):77-93. 11. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2:implementation of ...
【Abstract】Objective: To analyze the clinical manifestations and genotyping of 29 cases of Duchenne muscular dystrophy (DMD); and to provide a reliable method for early diagnosis.Methods: A retrospective analyze was made in the clinical manifestations of 29 children diagnosed as DMD in our hospital...
1. Cell therapy for Duchenne muscular dystrophy; Duchenne型肌营养不良症的细胞治疗2. Research advance of stem cell transplantation in curing Duchenne muscular dystrophy; 干细胞移植治疗Duchenne型肌营养不良症的研究进展3. Diagnosis of Duchenne muscular dystrophy by CT; Duchenne型肌营养不良症的CT诊断...
Duchenne型肌营养不良 Duchenne muscular dystrophy (DMD) 一种由于DMD 基因变异引起的以进行性、对称性肌肉无力和萎缩为主要特征的X连锁隐性遗传神经肌肉病,也是最常见的进行性肌营养不良 [1-6]。 图片 命名1868年,由法国神经科医生Duchenne de Boulogne首次详细报道并提出诊断标准,故而以其姓氏命名 [2, 7]。