IRCCS Fondazione Stella Maris, Pisa, Italy.
Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.
Acta Myol. 2020 Dec 1;39(4):218-221. doi: 10.36185/2532-1900-025. eCollection 2020 Dec.
Two patients with a paucisymptomatic hyperckemia underwent a skeletal muscle biopsy and massive gene panel to investigate mutations associated with inherited muscle disorders. In the SGCA gene, sequence analyses revealed a homozygous c.850C > T/p.Arg284Cys in patient 1 and two heterozygous variants (c.739G > A/p.Val247Met and c.850C > T/p.Arg284Cys) in patient 2. Combination of histology and immunofluorence studies showed minimal changes for muscular proteins including the α-sarcoglycan. These two cases highlight the advantages of next-generation sequencing in the differential diagnosis of mild myopathic conditions before considering the more invasive muscle biopsy in sarcoglycanopathies.
两名症状轻微高肌酸激酶血症患者接受了骨骼肌活检和大规模基因分析，以调查与遗传性肌肉疾病相关的突变。在 SGCA 基因中，序列分析显示患者 1 存在纯合 c.850C>T/p.Arg284Cys，患者 2 存在两种杂合变异（c.739G>A/p.Val247Met 和 c.850C>T/p.Arg284Cys）。组织学和免疫荧光研究相结合显示，包括α-肌聚糖在内的肌肉蛋白的变化极小。这两个病例突出了下一代测序在肌聚糖病中考虑更具侵袭性的肌肉活检之前，对轻度肌病的鉴别诊断的优势。
