Abstract：
Patients with myopathies caused by pathogenic variants in tropomyosin genes TPM2 and TPM3 usually have muscle hypotonia and weakness, their muscle biopsies often showing fibre size disproportion and nemaline bodies. Here, we describe a series of patients with hypercontractile molecular phenotypes, high muscle tone, and mostly non-specific myopathic biopsy findings without nemaline bodies. Three of the patients had trismus, whilst in one patient, the distal joints of her fingers flexed on extension of the wrists. In one biopsy from a patient with a rare TPM3 pathogenic variant, cores and minicores were observed, an unusual finding in TPM3-caused myopathy. The variants alter conserved contact sites between tropomyosin and actin.
摘要：
由原肌球蛋白基因TPM2和TPM3的致病变异引起的肌病患者通常会出现肌肉张力减退和无力，他们的肌肉活检通常显示纤维大小不均衡和线虫体。这里,我们描述了一系列具有过度收缩分子表型的患者，高肌肉张力,和大多数无线虫体的非特异性肌病活检结果。其中三个病人有三丝,而在一个病人身上，她手指的远端关节在手腕伸展时弯曲。在患有罕见TPM3致病变异的患者的一次活检中，观察到岩心和微矿，TPM3引起的肌病的一个不寻常的发现。变体改变原肌球蛋白和肌动蛋白之间的保守接触位点。
