线状体肌病(nemaline myopathy,NM)由Conen等和Shy等于1963年首先报告,其定义基于肌纤维结构的异常,即可在肌纤维中发现线状体(nemaline body)或称肌杆(rod),又称杆状肌病。“线状(nema)”一词由Shy等首先应用,因肌杆呈线样结构。NM发病率约为2∶10万,可呈常染色体显性和隐性二种方式遗传,其临床表现和组织病理无差别。现将有关此病的研究进展综述如下。 Neonine myopathy (NM), first reported by Conen et al. And Shy et al. In 1963, is based on the abnormality of myofiber structure, where nemaline bodies or rods are found in myofibers, , Also known as rod myopathy. The term “nema” is first applied by Shy et al., Because the muscular rod has a linear structure. NM incidence of about 2:10, can be autosomal dominant and recessive two ways of inheritance, the clinical manifestations and histopathology no difference. Now the research progress on the disease are summarized below.