Department of Pathology (Neuropathology), 12 de Octubre University Hospital, Avda de Córdoba s/n, Madrid 28041, Spain; Research Institute of Hospital 12 de Octubre (i+12), Madrid, Spain.
Department of Pathology (Neuropathology), 12 de Octubre University Hospital, Avda de Córdoba s/n, Madrid 28041, Spain; Research Institute of Hospital 12 de Octubre (i+12), Madrid, Spain..
J Neurol Sci. 2018 Nov 15;394:63-67. doi: 10.1016/j.jns.2018.08.026. Epub 2018 Sep 5.
Sarcoglycanopathies (LGMD 2C2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12-16 years.
Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic.
Genetic analysis revealed homozygous or compound heterozygous mutations in SGCA gene and Western Blot demonstrated protein reduction confirming the diagnosis of α-sarcoglicanopathy.
Our cases evidence that the diagnosis of mild forms of alfa sarcoglicanopathy could be a challenge and suggest the possibility that they could be underdiagnosed. The use of Next generation Sequencing targeted gene panels is very helpful in the diagnosis of these patients.
假性肥大型肌营养不良症 2C2F（LGMD 2C2F）是肢带型肌营养不良症（LGMD）的一个亚组，由肌聚糖基因突变引起。它们通常在儿童时期发病，具有快速进展的病程，在 12-16 年内丧失行走能力。
对三名进行性肌肉无力的成年患者进行了下一代测序（NGS）靶向基因 panel 检测，这些患者的常规肌肉组织学和免疫组织化学检查结果不具诊断意义。
基因分析显示 SGCA 基因存在纯合子或复合杂合突变，Western Blot 显示蛋白减少，确诊为α-肌聚糖病。
我们的病例表明，轻度α-肌聚糖病的诊断可能具有挑战性，并提示这些疾病可能存在漏诊的情况。使用下一代测序靶向基因 panel 非常有助于这些患者的诊断。
