First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features
作者: Bolin HuLi XiongYibiao ZhouXiaoqing LuQianqian XiongQing LiuXueliang QiWeijiang Ding
作者单位: 1Department of Neurology, The Second Affiliated Hospital of Nanchang University
2Department of Neurology, The Third Hospital of Nanchang
3Department of Orthopaedics, The First Affiliated Hospital of Nanchang University, China.
刊名: Medicine, 2018, Vol.97 (38), pp.e12506-e12506
来源数据库: Wolters Kluwer Journal
DOI: 10.1097/MD.0000000000012506
原始语种摘要: ABSTRACT: Limb-girdle muscular dystrophy 2L (LGMD2L) is mainly characterized by late adult onset, atrophy of proximal muscles, chronic progressive and asymmetric weakness, accompanied by increased creatine kinase (CK) levels, dystrophic pathological changes and electromyography showing myogenic damage. To date, familial LGMD2L was reported in European countries and had not been reported in China.A careful investigation of the clinical manifestations, muscle performance imaging, biopsy, and target next-generation sequencing (NGS) technology was utilized to identify pathogenic genetic variants in a 4-generation pedigree that includes 6 affected individuals.The results revealed mild-to-moderate hypertrophy of bilateral gastrocnemii and slight weakness and atrophy in the proximal muscles of...
全文获取路径: Wolters Kluwer 
影响因子:4.233 (2012)

  • pathological 病理学的
  • imaging 图像形成
  • dystrophy 营养障碍
  • muscular 肌肉的
  • girdle 薄煤层
  • atrophy 萎缩
  • muscles 筋肉
  • myopathy 肌病
  • interstitial 间隙原子
  • bilateral 双边的