Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
Neuromuscul Disord. 2011 Nov;21(11):812-5. doi: 10.1016/j.nmd.2011.05.005. Epub 2011 Jun 30.
Myosin storage myopathy is a rare neuromuscular disorder, characterized by subsarcolemmal inclusions exclusively in type I skeletal muscle fibers, known as hyaline bodies. Its clinical spectrum is diverse, as are its modes of inheritance. Myosin storage myopathy, also called hyaline body myopathy, is caused by a pathogenic mutation in the MYH7 gene, encoding for the slow/β-cardiac myosin heavy chain. We describe a patient with this uncommon myopathy, caused by a new p.K1784delK mutation in the MYH7 gene. The patient developed a severe thoracolumbar scoliosis and had scoliosis surgery.
肌球蛋白贮积症是一种罕见的神经肌肉疾病,其特征为仅在 I 型骨骼肌纤维出现的肌膜下包涵体,即透明体。其临床表现多样,遗传方式也多样。肌球蛋白贮积症,也称为透明体肌病,由 MYH7 基因突变引起,该基因编码慢肌/β-心肌肌球蛋白重链。我们描述了一位患有这种罕见肌病的患者,其致病原因为 MYH7 基因中的新 p.K1784delK 突变。该患者出现严重的胸腰椎侧凸,并接受了脊柱侧弯矫形手术。