myopathy相关论文
目的:分析1例表现肌病和小脑萎缩共济失调患儿的遗传学病因。方法:对患儿进行临床和实验室检查，应用全外显子二代测序技术对患儿进......
Mucosal necrosis of the small intestine in myopathy,encephalopathy, lactic acidosis, and stroke-like
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Alcohol-related myopathy is characterized by severe biochemical and structural changes in skeletal muscle,and muscle at-......
BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM ofte......
BACKGROUND Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen V......
Muscular atrophy and weakness in the lower extremities in Behçet’s disease: A case report and review
BACKGROUND In Behçet’s disease(BD),very few cases of muscular involvement have been reported previously.The natural hi......
Coenzyme Q10 in neurodegenerative disorders: Potential benefit of Co Q10 supplementation for multipl
Coenzyme Q10(Co Q10) is an essential cofactor in the mitochondrial respiratory pathway and also functions as a lipid-sol......
Alcoholism has been associated with growth impairment, osteomalacia, delayed fracture healing, and aseptic necrosis(prim......
Abnormal layering of muscularis propria as a cause of chronic intestinal pseudo-obstruction:A case r
Visceral myopathy is one of the causes of chronic intestinal pseudo-obstruction. Most cases pathologically reveal degene......
5.1 Diabetes mellitus 2006025 Investigation of pathogenesis of diabetic myopathy of skeletal muscle in experimental type......
Even though mutations in LMNA have been reported in patients with typical dilated cardio-myopathy(DCM)and atrioventricul......
Objective To investigate the value of contrast enhancement T_1 mapping in detection of diffuse myocardial fibrosis in ca......
副肿瘤性神经疾患可影响神经系统从大脑皮质到神经肌肉接头乃至肌肉本身的任何一个部位 ,其临床表现多种多样 ,早期识别和正确诊断......
目的 探究伴神经源性损害的非炎性肌病患者临床及电生理特点.方法 回顾性收集自2015至2017年我院明确诊断为肌肉疾病且在我院肌电......
目的 分析5例中央核肌病的临床及病理特点,探讨其诊断和鉴别诊断价值.方法 对5例肌肉活检证实的中央核肌病标本进行常规组织化学和......
线粒体肌病(Mitochondrial myopathy)和线粒和脑肌病(Mitochondrial encephalomyopathy)是由于原发性线粒体代谢异常引起的一组多......
与HIV感染有关并能治疗的原发性肌肉疾病包括炎症性肌病和叠氮胸苷(zidovudine, AZT)肌病,前者临床和病理表现已有报导,后者还不......
线粒体肌病(Mitochondrial myopathy)是一组临床表现不一、发病学上异源性疾病,除骨骼肌外可以累及多个系统(线粒体脑肌病或细胞......
自1962年Luft氏首次报导以来,线粒体肌病(Mitochondrial myopathy)和线粒体脑肌病(Mtiochondrial encephalomyopathy)的研究为人们......
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Clinical, pathologic and geneticstudiesonmitochondrialmyopathy, encephalopathy, lacticacidosisandstroke┐li......
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Hypokalemic myopathy in a patient with gluten-sensitive enteropathy and dermatitis herpetiformis Duh
The case of a 22-year-old patient with symptomatic hypokalemia caused by rhabdomyolysis is presented as a rarely reporte......
Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to......
目的探讨脂质沉积性肌病(lip id storagy myopathy,LSM)的临床及病理特征。方法收集3例经病理检查确诊的LSM,结合相关文献分析其临......
目的 分析常染色体显性遗传中央核肌病(centronuclear myopathy,CNM)一家系中患者的临床、病理和基因突变特点.方法 对家系中患者......
20世纪50年代重症监护病房(intensive care unit,ICU)的出现,使危重患者的预后获得了极大的改善,同时也带来一类新的疾病--ICU获得......
OBJECTIVE: Polymyositis (PM) mainly involves proximal limb and trunk muscles. Ocular muscles are not affected, except in......
目的正常血钾性周期麻痹是由位于17号染色体上编码人类骨骼肌钠通道基因(SCN4A)发生突变所致,以肢体无力短暂、反复发作并完全恢复......
Objective:To report the clinical manifestations of AIDS with nervous system complications.Methods:We collected the clini......
目的分析脂质沉积性肌病(lipid storage myopathy,LSM)患者静息时、亚极限运动后及治疗前后股四头肌31磷-磁共振波谱成像(31P-MRS)......
Celiac disease(CD) is frequently associated with neurological disorders,but very few reports concern the association wit......
目的报道1例临床上少见的脂质沉积性肌病(lipid storage myopathy,LSM)患者的临床资料,结合相关文献分析其临床特点、病理特征及治......
目的总结脂质沉积性肌病(lipid storage myopathy,LSM)的临床和病理特点,为早期诊断和治疗提供参考。方法对5例脂质沉积性肌病患者......
Critical illness polyneuropathy and critical illness myopathy are frequent complications of severe illness that involve ......
先天性肌病(congential myopathy,CM)是一组发病年龄较早的具有临床和遗传异质性的神经肌肉疾病,主要临床表现为全身性肌无力、肌......
新近，与人类多种疾病有关的线粒体DNA（mtD-NA）突变已被确定。与这些突又｛大的致加＿｛5、未知，但有一点是清楚的，u线粒体负传学兀。；E个问题需......
S1-1 Studies on toxicity of Chinese medicines and decreased virulence through the compatibility of herbal ingredientsLI ......
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,Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high pl
Myotoxicity is a significant factor contributing to the poor adherence and reduced effectiveness in the treatment of sta......
Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screen
Hereditary tyrosinemia type 1(HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatmen......
目的研究中心核肌病（centronuclear myopathy，CNM）患者口腔颌面部临床特征及颌面肌群MRI表现，为CNM患者口腔正畸治疗提供生物力学依据......
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7......
甲状腺功能亢进(甲亢)性肌病是甲亢的常见并发症之一,其临床表现多种多样,一般分5种类型,目前各种类型甲亢性肌病的发病机制尚不清......
目的：通过本例案例报道,提示临床规范和合理用药.方法：通过药学查房,对患者用药史的详细询问及后期循证取证,判断药物相关性不良反应......
