Genetic Variability and Clinical Spectrum of Chinese Patients with Limb-Girdle Muscular Dystrophy Ty

来源 :The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie | 被引量 : 0次 | 上传用户:www752169
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Aim Previous studies of limb-girdle muscular dystrophy type 2A (LGMD2A) in many countries have suggested a heterogeneous genetic and clinical spectrum.We aims to investigate the correlations between phenotypes and genotypes of Chinese patients with LGMD2A.Materials and Methods CAPN3 gene was directly screened in 18 Chinese Han subjects who exhibited severely reduced or completely absent calpain-3 expression, as determined by Western blot analysis.We subsequently analyzed genotype/phenotype correlations.
其他文献
Objective To observate the correlation of the related factors and external anal sphincter electromyography in multiple system atrophy(MSA) patients Methods We evaluated 43 patients, who had been diagn
会议
Background Hirayama disease is a rare condition characterized by juvenile-onset of upper limb amyotrophy of uncertain etiology.The purpose of this study was to retrospectively investigate the electrop
会议
Background and Objective Periodic paralyses (PP) are rare muscle channelopathies characterized by severe episodes of muscle weakness associated with variations in bloodpotassium levels.The functional
会议
Objective This study aimed at exploring the prognostic evaluation value of the relative band power(RBP) of EEG in acute large area cerebral infarction.Methods The team bring into a total of 30 cases w
会议
Objective The study aimed at exploring the application of amplitude-integrated electroencephalography(aEEG) in evaluating the neurological function of hypoxic-ischemic encephalopathy(HIE) with cardiop
会议
in this paper, the observation of 60 cases of cerebral infarction of the eeg and CT,Results show that (1) 60 cases of cerebral infarction of electroencephalogram (eeg), 2 cases(3%), normal abnormal 58
会议
Objective Tolnvestigate the pathological manifestations of WD patients with abdominal muscles and copper staining technology to learn more about the muscles of patients with WD and pathological featur
会议
Introduction Adequate analgesia and sedation can reduce pain and distress for children undergoing painful procedures including intramuscular botulinum toxin injections.While there is no established st
会议
Objective Hypokalemic periodic paralysis (HypoKPP) is characterized by episodic flaccid paralysis of muscle and acute hypokalemia.The non-familial form of HypoKPP is consisted of thyrotoxic periodic p
会议
Introduction We present a 10-year-old Chinese boy with features of Charcot-Marie-Tooth disease #CMT# and Duchenne muscular dystrophy #DMD# caused by coexistence of duplications in peripheral myelin pr
会议