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常染色体显性遗传性肢带型肌营养不良症研究进展 被引量:4

Review on Autosomal Dominant Form Limb-girdle Muscular Dystrophy(LGMD1)
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摘要 肢带型肌营养不良症(LGMD)患病率仅为1/20 000,其中大部分为隐性遗传性肢带型肌营养不良症(LGMD2型),而显性遗传性肢带型肌营养不良症(LGMD 1型)则更为罕见,仅占LGMD的10%。近年来,随着影像学和基因检测技术的发展,对LGMD 1型的报道逐步增多和深入。为加强对LGMD 1型的认识,回顾了近15年来对LGMD 1型的文献报道,对其临床表现、病理特点、基因类型及研究进展进行综述。 The limb-girdle muscular dystrophy(LGMD), with a low prevalence of approximately 1 in 20 000, includes two forms. The recessively inherited forms(LGMD2s) are the majority, while the dominantly inherited forms(LGMD1s) are the minority which represent less than 10% of all LGMDs. In recent years, with the technological development of neuro-image and genetic tests, reports of LGMD1 s began to increase. The clinical manifestation, histopathology, genetic characteristics and updates of LGMD1 within 15 years were reviewed, which aimed at enhancing the awareness of LGMD1.
作者 杨钊 董继宏
出处 《中国临床神经科学》 2016年第1期84-88,共5页 Chinese Journal of Clinical Neurosciences
关键词 肢带型肌营养不良 常染色体显性遗传 临床表现 病理 基因 limb-girdle muscular dystrophy autosomal dominant clinical manifestation histopathology genetic
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