Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause. Most patients have congenital onset characterized by muscle weakness and hypotonia, but the spectrum of clinical phenotypes is broad, ranging from severe neonatal presentations to onset of a milder disorder in childhood. Most patients with adult onset have an autoimmune-related myopathy with a progressive course. The wide application of massively parallel sequencing methods is increasing the number of known causative genes and broadening the range of clinical phenotypes. Nemaline myopathies are identified by the presence of structures that are rod-like or ovoid in shape with electron microscopy, and with light microscopy stain red with the modified Gömöri trichrome technique. These rods or nemaline bodies are derived from Z lines (also known as Z discs or Z disks) and have a similar lattice structure and protein content. Their shape in patients with mutations in KLHL40 and LMOD3 is distinctive and can be useful for diagnosis. The number and distribution of nemaline bodies varies between fibres and different muscles but does not correlate with severity or prognosis. Additional pathological features such as caps, cores and fibre type disproportion are associated with the same genes as those known to cause the presence of rods. Animal models are advancing the understanding of the effects of various mutations in different genes and paving the way for the development of therapies, which at present only manage symptoms and are aimed at maintaining muscle strength, joint mobility, ambulation, respiration and independence in the activities of daily living.

中文翻译：

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肾上腺肌病：当前观点。

Nemaline肌病是由至少十二个基因的从头发生，显性或隐性遗传突变引起的先天性肌病的异质性组。编码骨骼肌α-肌动蛋白（ACTA1）和星云蛋白（NEB）的基因）是最常见的遗传原因。大多数患者具有以肌肉无力和肌张力减退为特征的先天性发作，但临床表型的范围很广，从严重的新生儿表现到儿童期轻度障碍的发作不等。大多数成年发作的患者患有与自身免疫相关的肌病，并伴有进行性病程。大规模平行测序方法的广泛应用正在增加已知致病基因的数量，并扩大临床表型的范围。肾上腺肌病可以通过电子显微镜检查发现杆状或卵形结构，而光学显微镜则可以使用改良的Gömöri三色技术将其染成红色。这些杆或肾上腺体衍生自Z线（也称为Z盘或Z盘），并具有相似的晶格结构和蛋白质含量。他们的形状在突变的患者KLHL40和LMOD3具有独特性，可用于诊断。肾上腺素体的数量和分布在纤维和不同肌肉之间变化，但与严重程度或预后无关。其他病理特征，例如帽，核和纤维类型的歧义，与已知导致杆状体存在的那些基因具有相同的基因。动物模型正在促进对不同基因中各种突变的影响的理解，并为发展疗法铺平了道路，目前该疗法仅能控制症状，旨在维持肌肉力量，关节活动性，活动，呼吸和活动的独立性日常生活