Identification of dystrophin as the mutated protein in Duchenne muscular dystrophy (DMD) was the initial stage in the recognition of a wide clinical spectrum of disease associated with dystrophin gene mutations.
Arpad von MoersFrank K.H van LandeghemRonald D CohnEckardt BaumgartenGisela Stoltenburg-DidingerNeuromuscular Disorders NmdVon Moers A, Van Landegheu FK, Cohn RD, Baumgarten E, Burgen J, Stoltenburg-Didinger G. Dystrophinopathy in a boy with Chediak-Higashi syndrome. Neuromuscul Disord 1998;8...
dystrophinopathy ==【肌萎缩蛋白病】蛋白病
基因分析在Dystrophinopathy与Sarcoglycanopathy诊断中的作用 概念 Dystrophinopathy是DMD基因变异导致的一组XR骨骼肌病，主要包括：DMD、BMD、女性DMD。Sarcoglycanopathy是SGCA、B、D、G基因变异、肌聚糖蛋白（sarcoglycans,SGC）缺陷导致的一组肢带型肌营养不良(LGMD2C2F)。两组疾病临床表现相似：四肢近端肌、腰带肌...
www.nature.com/jhg DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy Ruolan Guo1,3, Guosheng Zhu1, Huimin Zhu1, Ruiyu Ma1, Ying Peng1,2, Desheng Liang1,2 and Lingqian Wu1,2 Dystrophinopathy is a group of inherited diseases caused by mutations in the DMD gene...
Dystrophinopathy is a spectrum of X-linked disorders caused by mutations in the DMD gene, leading to absent or decreased dystrophin protein. This group of
1) dystrophinopathy 抗肌萎缩蛋白病 1. Objective To investigate the clinical and pathological features of Turner syndrome withdystrophinopathy. 目的探讨Turner综合征合并抗肌萎缩蛋白病(dystrophinopathy)的临床表现、病理学特点。 2) dystrophin 抗肌萎缩蛋白 ...
Dystrophinopathy in FemalesDystrophin immunocytochemistry was used to study muscle biopsies from 505 girls and women with neuromuscular disease seen at the National Institute of Neuroscience, Tokyo, the University of Pittsburgh School of Medicine and the Columbia Presbyterian Medical Center, New York....
Autosomal recessive dystrophinopathy does not exist. This is because dystrophinopathy is a range of illnesses that are caused by problems with the DMD...Become a member and unlock all Study Answers Start today. Try it now Create an account Ask a question Our experts can answer your tough...
To our knowledge, this is the first documentation of an asymptomatic dystrophinopathy in multiple males of advanced age. Based on molecular findings, this family would be given a diagnosis of Becker muscular dystrophy. This diagnosis implies the development of clinical symptoms, even though this ...