Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Neuromuscul Disord. 2013 Aug;23(8):675-81. doi: 10.1016/j.nmd.2013.05.010. Epub 2013 Jun 22.
Alpha-dystroglycanopathy is caused by the glycosylation defects of α-dystroglycan (α-DG). The clinical spectrum ranges from severe congenital muscular dystrophy (CMD) to later-onset limb girdle muscular dystrophy (LGMD). Among all α-dystroglycanopathies, LGMD type 2I caused by FKRP mutations is most commonly seen in Europe but appears to be rare in Asia. We screened uncategorized 40 LGMD and 10 CMD patients by immunohistochemistry for α-DG and found 7 with reduced α-DG immunostaining. Immunoblotting with laminin overlay assay confirmed the impaired glycosylation of α-DG. Among them, five LGMD patients harbored FKRP mutations leading to the diagnosis of LGMD2I. One common mutation, c.948delC, was identified and cardiomyopathy was found to be very common in our cohort. Muscle images showed severe involvement of gluteal muscles and posterior compartment at both thigh and calf levels, which is helpful for the differential diagnosis. Due to the higher frequency of LGMD2I with cardiomyopathy in our series, the early introduction of mutation analysis of FKRP in undiagnosed Taiwanese LGMD patients is highly recommended.
α- 聚糖蛋白病是由于α- 聚糖蛋白（α-DG）糖基化缺陷引起的。其临床表现从严重的先天性肌营养不良症（CMD）到迟发性肢体带肌营养不良症（LGMD）不等。在所有的α-聚糖蛋白病中，由 FKRP 突变引起的 LGMD 2I 型在欧洲最为常见，但在亚洲似乎很少见。我们通过免疫组化法对 40 例 LGMD 和 10 例 CMD 患者进行了α-DG 的未分类筛查，发现 7 例α-DG 免疫染色减弱。用层粘连蛋白覆盖试验进行免疫印迹证实了α-DG 糖基化受损。其中 5 例 LGMD 患者存在 FKRP 突变，导致 LGMD2I 的诊断。鉴定出一个常见的突变，c.948delC，并且在我们的队列中发现了非常常见的心肌病。肌肉图像显示臀部肌肉和大腿及小腿后侧间隔严重受累，有助于鉴别诊断。由于我们的系列中伴有心肌病的 LGMD2I 发生率较高，强烈建议在未确诊的台湾 LGMD 患者中早期进行 FKRP 突变分析。
