Small heat shock proteins are molecular chaperones that exert diverse cellular functions. To date, mutations in the coding regions of HSPB1 (Hsp27) and HSPB8 (Hsp22) were reported to cause distal hereditary motor neuropathy and Charcot-Marie-Tooth disease. Recently, the clinical spectrum of HSPB1 and HSPB8 mutations was expanded to also include myopathies. Here we provide an update on the molecular genetics and biology of small heat shock protein mutations in neuromuscular diseases.

中文翻译：

---

在神经肌肉疾病中突变的小型热休克蛋白在疾病生物学中的新见解。

小型热激蛋白是发挥多种细胞功能的分子伴侣。迄今为止，据报道，HSPB1（Hsp27）和HSPB8（Hsp22）编码区的突变引起远端遗传性运动神经病和Charcot-Marie-Tooth病。最近，HSPB1和HSPB8突变的临床范围扩大到也包括肌病。在这里，我们提供了神经肌肉疾病中小的热休克蛋白突变的分子遗传学和生物学信息。