肌球蛋白结合蛋白C1(MYBPC1)编码肌球蛋白结合蛋白C,慢型（sMyBP-C），一种调节肌动球蛋白交联的辅助蛋白，稳定粗丝，并调节肌肉肉瘤的收缩性，最近与震颤的肌病有关。儿童早期MYBPC1突变的临床特征与脊髓性肌萎缩症（SMA）有一些相似之处，如张力减退,舌头和四肢的不自主运动，延缓了电机的发展。SMA新疗法的开发需要在婴儿期早期将SMA与其他疾病区分开来。我们报告了MYBPC1突变的特征性舌运动，以及其他临床发现，如深肌腱反射阳性和正常周围神经传导速度测试，这可能有助于考虑其他疾病作为鉴别诊断。
Myosin-binding protein C1 (
MYBPC1) encodes myosin-binding protein C, slow type (sMyBP-C), an accessory protein that regulates actomyosin cross-linking, stabilizes thick filaments, and modulates contractility in muscle sarcomeres and has recently been linked to myopathy with tremor. The clinical features of
MYBPC1 mutations manifesting in early childhood bear some similarities to those of spinal muscular atrophy (SMA), such as hypotonia, involuntary movement of the tongue and limbs, and delayed motor development. The development of novel therapies for SMA has necessitated the importance of differentiating SMA from other diseases in the early infancy period. We report the characteristic tongue movements of
MYBPC1 mutations, along with other clinical findings, such as positive deep tendon reflexes and normal peripheral nerve conduction velocity testing, which could help in considering other diseases as differential diagnoses.
