College of Medicine, Prince Sattam bin Abdulaziz University, Al-Kharj 11942, Kingdom of Saudi Arabia.
Neurosciences (Riyadh). 2020 Jul;25(3):214-217. doi: 10.17712/nsj.2020.3.20200002.
Dysferlinopathies are rare autosomal recessive muscular dystrophies caused by mutation in the dysferlin (DYSF) gene, resulting in varied phenotype. In this case report, we review a 26-year-old diabetic male patient who presented to hospital suffering from progressive muscle weakness. We confirmed the diagnosis of dysferlinopathy with phenotype of limb girdle muscular dystrophy, followed by a muscle biopsy, immunohistochemistry and a molecular technique, exome sequencing. The specific homozygous mutations in DYSF and heterozygous mutation PSAP genes identified in the present case of LGMD-2B are found in the Saudi population.
肌营养不良蛋白病是一种罕见的常染色体隐性遗传性肌肉疾病，由肌营养不良蛋白（DYSF）基因突变引起，表现出不同的表型。在本病例报告中，我们回顾了一位 26 岁的糖尿病男性患者，他因进行性肌肉无力到医院就诊。我们通过肌肉活检、免疫组织化学和分子技术——外显子组测序，确诊为肢带型肌营养不良症 2B 型肌营养不良蛋白病，随后对该患者进行了表型分析。本病例中发现 LGMD-2B 患者的 DYSF 基因存在纯合突变，PSAP 基因存在杂合突变，这些突变在沙特人群中存在。
