Ullrich先天性肌营养不良1是英文Ullrich congenital muscular dystrophy 1的中文翻译。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止Ullrich先天性肌营养不良1在后代或者二胎中的出现。根据《人的基因序列变化与人体疾病表征》,该病属于骨骼-肌肉-结缔组织疾病。
Ullrich先天性肌营养不良症1常染色体显性遗传是英文Ullrich congenital muscular dystrophy 1, autosomal dominant的中文翻译。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止Ullrich先天性肌营养不良症1常染色体显性遗传在后代或者二胎中的出现。根据《人的基因序列变化...
Ullrich first described a congenital form of "scleroatonic muscular dystrophy," which is characterized by early-onset, generalized, and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints, and normal intelligence. In most cases, muscle ...
Ullrich congenital muscular dystrophy refers to a distinct clinical phenotype which was first described by Ullrich in 1930 as scleroatonic congenital muscular dystrophy (Ullrich, 1930). It is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction...
Ullrich congenital muscular dystrophy (UCMD) is a severe muscle disease due to mutations in the genes encoding collagen VI, an extracellular matrix protein forming a microfibrillar network that is particularly prominent in the endomysium of skeletal muscle [1], [2]. Myofibers from the Col6a1−...
P.1.1 Natural history of Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy (UCMD) is the second most common CMD in Japan. Mutations in either COL6A1, COL6A2, or COL6A3 gene, each encoding a subunit of collagen VI (COL6) are known to cause UCMD. To date, there...
The clinical features, in particular proximal contractures, distal hyperextensibility, mild dysmorphism and hyperhidrosis, allow recognition of this subtype of congenital muscular dystrophy, which has no specific pathological characteristics. There is evidence in favour of an autosomal recessive mode of ...
结论 Ⅵ型胶原肌膜选择性缺失型UCMD以近端关节挛缩和远端关节弹性过度为临床特征,临床严重度和Ⅵ型胶原完全缺失者没有显著差异.双重免疫荧光染色提示Ⅵ型胶原在肌膜上表达选择性缺失是其免疫病理特点.%Objective To investigate the clinical and immune pathological features of Ullrich congenital muscular ...
乌尔里希型先天性肌营养不良（Ullrich congenital muscular dystrophy）是2020年公布的神经病学名词。定义 由COL6A2基因异常导致胶原蛋白Ⅵ缺陷而引起的遗传性肌病。婴儿早期出现四肢无力和肌肉萎缩，严重的关节挛缩、脊柱侧弯、远端关节过伸。血清肌酶轻度升高或正常，肌电图提示肌源性损害；肌肉活检病理显示肌纤维大小不等...