内容提示:神经病学与神经康复学杂志2009年9月第6卷第3期J Neu同NeuM曲abil,september2009,V01.6,No.3 ·短 篇· 以晕厥发病的成年Becker型肌营养不良症l例报道 沈沸, 俞羚, 陆钦池, 朱莹,李焰生(上海交通大学医学院附属仁济医院神经内科,上海200127) Becker型肌营养不良症(Becker musculardystm- 弱,双下肢膝...
Get PDF (881K) Keywords: Becker muscular dystrophy; dystrophin; metabolic myopathies; familial cardiomyopathy Abstract The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne (DMD) and Becker (BMD) muscular ...
Becker muscular dystro- phy presenting as eosinophilic inflammatory myopathy in an infant. J Child Neurol 1997;12:146-7.Weinstock A, Green C, Cohen BH, Prayson RA: Becker muscular dystrophy presenting as eosinophilic inflammatory myopathy in an infant. J Child Neurol 1997;12:146-147....
Keywords Creatine Kinase Muscular Dystrophy Southern Blot Analysis Duchenne Muscular Dystrophy cDNA Probe Use our pre-submission checklist Avoid common mistakes on your manuscript. Sections References Article PDF References Author information Rights and permissions About this article AdvertisementDiscover...
These findings supported a diagnosis of congenital canine muscular dystrophy resembling Becker muscular dystrophy in man. 机译:出现了一只3岁的雄性拉布拉多犬,其临床表现为进行性运动不耐症,双侧肘伸,前肢僵硬,后肢屈曲和后凸畸形。肌肉组织的显微镜检查显示出肌纤维大小的明显变化,用成熟脂肪组织替代肌肉以及...
Muntoni F, Mateddu A, Cianchetti C, Marrosu MG, Clerk A, Cau M, et al. Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. J Neurol Neurosurg Psychiatry. 1993 Jan;56(1):26-31....
19世纪初Duchenne观察到年轻男孩出现严重肌无力和小腿异常增大,脂肪组织替代骨骼肌,命名Duchenne肌营养不良症(Duchenne muscular dystrophy,DMD)。1955年Becker描述一种临床表现与DMD类似的X连锁肌营养不良症,但其起病较晚、症状较轻、病情进展缓慢,1969年首次命名为Becker肌营养不良症(Becker muscular dystrophy,BMD)。
At that time DNA analysis of the DMD gene was the only routinely available diagnostic test for patients suspected of having muscular dystrophy. Over the last decade sequencing techniques have been developed for the detection of small mutations in the DMD gene. Our aim was to investigate whether ...
Becker/Duchenne肌营养不良(Becker/Duchenne muscular dystrophy, BMD/DMD)是由于编码抗肌萎缩蛋白的DMD基因(OMIM:300377)突变所致的X染色体连锁隐性遗传病,一般为男孩发病。其中DMD发病率较高,约为1/3 500[1],多为3~5岁发病,6岁出现行走困难,20~30岁死于心力衰竭或呼吸衰竭[2];BMD临床症状较轻,可保持行走能力...
Fig. 1. Characterization of Becker Muscular Dystrophy induced pluripotent stem cell line (CCMi004-A). In vitro trilineage differentiation assays showed that CCMi004-A is able to differentiate into cells of each germ layer (Ectoderm NESTIN/PAX6, mesoderm cardiac troponin T type 2 CTNT2 and end...