PDF(Pubmed)
Abstract：
PYROXD1-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. The exact role of PYROXD1 in the pathophysiology of LGMD remains unclear. We describe two brothers who presented to the neuromuscular clinic with progressive weakness of their upper and lower limbs over the preceding decades. Our case highlights how recent advancements in genetic sequencing have revolutionised the diagnostic classification process for LGMD and provided opportunities to establish diagnoses for previously unclassified myopathies. We also illustrate how the increased adoption of muscle MRI to identify disease and target muscle biopsy can provide better quality and more informative samples for classification. Finally, our report details the clinical and histopathological findings found in both cases adding valuable data to the currently limited information published on PYROXD1-associated myopathy.
摘要：
PYROXD1相关肌病是一种罕见的遗传形式的肢带型肌营养不良（LGMD），文献中仅报道了23例。PYROXD1在LGMD病理生理学中的确切作用尚不清楚。我们描述了两个兄弟，他们在过去的几十年中出现了上肢和下肢进行性无力的神经肌肉诊所。我们的案例强调了基因测序的最新进展如何彻底改变了LGMD的诊断分类过程，并为建立以前未分类的肌病的诊断提供了机会。我们还说明了如何增加采用肌肉MRI来识别疾病和目标肌肉活检可以为分类提供更好的质量和更多的信息样本。最后,我们的报告详细介绍了在这两个病例中发现的临床和组织病理学结果,为目前发表的关于PYROXD1相关肌病的有限信息增加了有价值的数据.
