PDF(Pubmed)
Abstract：
A class of genetically based congenital myopathies known as nemaline myopathies is defined by the development of nemaline rods within muscle fibers. We present a case involving an eight-year-old boy who presented with a history of delayed motor development, proximal muscle weakness, and neck flexor weakness. Muscle enzymes were normal, and electrophysiological studies revealed a myopathic pattern. Nemaline myopathy (NM) was diagnosed with the help of clinical exome sequencing, which showed a compound heterozygous mutation with a novel variant in the nebulin (NEB) gene.
摘要：
一类基于遗传的先天性肌病，称为线虫肌病，由肌肉纤维内的线虫棒的发育定义。我们提出了一个涉及一个八岁男孩的案例，他有运动发育迟缓的历史，近端肌无力,和颈部屈肌无力。肌肉酶正常,电生理研究揭示了一种肌病模式。在临床外显子组测序的帮助下诊断出网状肌病（NM），它显示出复合杂合突变，在星状蛋白（NEB）基因中具有新的变体。
