John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.
Genes (Basel). 2020 Jun 27;11(7):716. doi: 10.3390/genes11070716.
We identified the known c.1_9del mutation in the gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline decrement and a high jitter was detected in all patients by single-fiber electromyography. Clinical improvement was observed after treatment with pyridostigmine and salbutamol was started. We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated with mutations and the role of plectin in the neuromuscular junction.
我们在四个来自土耳其裔近亲家庭的非相关女性中鉴定出了基因中的已知 c.1_9del 突变。所有个体均表现出进行性四肢无力，无任何皮肤表现，肌肉活检显示出营养不良性改变。此外，神经学检查显示所有四个病例均有眼睑下垂、面部无力、易疲劳和肌肉痉挛。在两名患者中，重复神经刺激显示出边界递减，所有患者的单纤维肌电图均检测到高抖动。开始使用吡啶斯的明和沙丁胺醇治疗后，临床症状得到改善。我们进一步通过肌肉磁共振成像 (MRI) 特征和描述来自同一地理区域的三个人的共同 3.8Mb 单体型来对肢带型肌营养不良症 R17 患者的表型进行临床特征描述。此外，我们还回顾了与 plectin 基因突变相关的神经肌肉症状以及 plectin 在神经肌肉接头中的作用。
