【摘 要】
：
Objectives Limb-girdle muscular dystrophy (LGMD) is a group of rare inherited disease characterized by progressive weakness of skeletal muscle starting from shoulder and hip girdles.Autosomal dominant
【机 构】
：
Department of Neurology, Research Institute for Convergence of Biomedical Research, Pusan National U
【出 处】
：
The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie
论文部分内容阅读
Objectives Limb-girdle muscular dystrophy (LGMD) is a group of rare inherited disease characterized by progressive weakness of skeletal muscle starting from shoulder and hip girdles.Autosomal dominant (AD) forms of LGMD1 are relatively rare.We identified novel DNAJB6 p.Fl001mutation in large Korean family, in which at least six individuals are clinically affected.We evaluated the affected individuals in order to characterize the clinical features of this family.
其他文献
在体外受精治疗中,胚胎发育潜能的正确评价是得到良好妊娠结局的基本保障.目前胚胎质量的评价仍以形态学为主要依据.卵裂期胚胎的形态学评分目前国内大多数中心采用的是第3天卵裂期移植的方式,采用以细胞数和碎片含量为主要指标的形态学评价方法,挑选优质的胚胎进行移植或冷冻,较差的胚胎则丢弃.但是由于胚胎移植入体内后着床、妊娠与多种因素相关,因此这种形态学的选择方法是否与胚胎的发育潜能是否一致难以判断.而体外进
玻璃化冷冻任何一项工作都是为了:保存人类珍贵的生命:卵子/胚胎没有损伤,没有风险直到患者的梦想成为现实Cryotec玻璃化冷冻的历史第一例体外受精胚胎(牛)第一例卵母细胞的体外成熟(牛)猪卵母细胞(最困难的细胞)
Introduction Long exercise test is helpful for diagnosis of hypokalemic periodic paralysis.After exercise, the CAMP amplitude of the studied muscle decreased accompanied by decrease of muscie strength
We report the case of a 40-year-old woman developed generalized muscle weakness without fluctuation in two months, Physical examination revealed a mobile mass in the right upper arm.Serum creatine pho
Introduction CMT1A is the most common hereditary neuropathy character by distal weakness and atrophy in limbs clinical and Pes Cavus.The electronic character is markedly decreased in nerve conduction.
Objectives Because of the multi-systemic presentation of myotonic dystrophy (DM), many patients visit various specialists before the diagnosis of DM.A part of patients were diagnosed after perinatal o
Background Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease that is caused by a defective dystrophin gene on the X chromosome and is characterized by progressive skeletal an
Background Twenty-seven hospitals in Japan specialize in treatment of muscular dystrophy patients, including inpatient care.Since 1999, we have conducted a survey of inpatients at these 27institutions
Among animal models of Duchenne muscular dystrophy, progressive muscle degeneration,ectopic calcification in skeletal muscle, and high serum phosphate (Pi) levels are dystrophic phenotypes in mdx mice
Introduction An established endogeneous Gne knockout mouse model of distal myopathy with rimmed vacuoles (DMRV) that expresses the human GNE D176V mutant gene was examined for beta-amyloid deposition