Abstract：
We present a case of fetal akinesia deformation sequence due to nemaline myopathy (NM). In addition to the muscle manifestations, prenatal observations included an enlarged subarachnoid space and delayed cortical development. Trio whole-exome sequencing revealed a de novo novel pathogenic variant in the ACTA1 gene, which encodes skeletal muscle alpha-actin. Our findings suggest that brain abnormalities can occur prenatally in NM and support the potential role of skeletal muscle alpha-actin in the central nervous system.
摘要：
我们介绍了一例由于线虫性肌病（NM）引起的胎儿运动障碍变形序列。除了肌肉表现，产前观察包括蛛网膜下腔扩大和皮质发育延迟。Trio全外显子组测序揭示了ACTA1基因中的一种新的致病变异，编码骨骼肌α-肌动蛋白。我们的发现表明，NM可能在产前发生脑异常，并支持骨骼肌α-肌动蛋白在中枢神经系统中的潜在作用。
