Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.

译文

:四肢肌营养不良症(LGMD)在印度很常见。近年来,有关LGMD的信息已逐渐发展。此信息分散在案例系列和案例研究中。这项研究的目的是整理有关LGMD的印度可用信息,并加以透视。使用关键词进行了PubMed搜索,例如印度的四肢肌肉营养不良,肌糖蛋白病,dysferlinopathy,钙蛋白酶病和GNE肌病。关于在印度背景下的LGMD的公开信息表明,在印度经常见到神经纤维异常,钙蛋白酶病,肌糖蛋白病和其他肌病,例如GNE肌病。除此之外,还有许多其他形式的轶事报道,其中一些具有遗传支持,而另一些则显示出免疫细胞化学缺陷。关于LGMD的基因型信息正在逐步发展,并且在选定的人群中发现了创始人突变。有必要进行进一步的多中心研究,以证明印度这些常见疾病的发生率和流行率。

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