Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy

被引:6
|
作者
Zhang, Yu-Tong [1 ]
Pu, Chuan-Qiang [1 ]
Ban, Rui [1 ,2 ]
Liu, Hua-Xu [1 ]
Shi, Qiang [1 ]
Lu, Xiang-Hui [1 ,3 ]
机构
[1] Chinese Peoples Liberat Army Gen Hosp, Dept Neurol, Beijing 100853, Peoples R China
[2] Nankai Univ, Sch Med, Tianjin 300071, Peoples R China
[3] Chinese Peoples Liberat Army Gen Hosp, Hainan Branch, Dept Neurol, Sanya 572000, Hainan, Peoples R China
基金
中国国家自然科学基金; 北京市自然科学基金;
关键词
PHENOTYPE;
D O I
10.4103/0366-6999.247208
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:2986 / 2988
页数:3
相关论文
共 50 条
  • [1] Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy
    Zhang Yu-Tong
    Pu Chuan-Qiang
    Ban Rui
    Liu Hua-Xu
    Shi Qiang
    Lu Xiang-Hui
    中华医学杂志英文版, 2018, 131 (24) : 2986 - 2988
  • [2] Cystinosis distal myopathy, novel clinical, pathological and genetic features
    Cabrera-Serrano, Macarena
    Junckerstorff, Reimar C.
    Alisheri, Ali
    Pestronk, Alan
    Laing, Nigel G.
    Weihl, Conrad C.
    Lamont, Phillipa J.
    NEUROMUSCULAR DISORDERS, 2017, 27 (09) : 873 - 878
  • [3] Clinical, pathological and genetic findings in two patients with myofibrillar myopathy
    Sheerin, U. M.
    Omer, S.
    Al-Sarraj, S.
    Bushby, K.
    Al-Memar, A.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2008, 79 (03): : 360 - 360
  • [4] The clinical, genetic, and pathological findings in a Chinese cohort of patients with hereditary nemaline myopathy
    Wang, Z.
    Hu, Z.
    Zhang, W.
    Lv, H.
    Yu, M.
    Yuan, Y.
    NEUROMUSCULAR DISORDERS, 2018, 28 : S102 - S102
  • [5] Clinical and pathological features of patients with nemaline myopathy
    Yin, Xi
    Pu, Chuan Qiang
    Wang, Qian
    Liu, Jie Xiao
    Mao, Yan Ling
    MOLECULAR MEDICINE REPORTS, 2014, 10 (01) : 175 - 182
  • [6] Clinical, electrophysiological and pathological features of congenital myopathy
    Zhu, W.
    Da, Y.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 1087 - 1088
  • [7] Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases
    Chao, Jiang
    Wang, Jianping
    Lu, Haidong
    CASE REPORTS IN MEDICINE, 2012, 2012
  • [8] Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China
    Ting Chen
    Chuanqiang Pu
    Qian Wang
    Jiexiao Liu
    Yanling Mao
    Qiang Shi
    Neurological Sciences, 2015, 36 : 735 - 741
  • [9] Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China
    Chen, Ting
    Pu, Chuanqiang
    Wang, Qian
    Liu, Jiexiao
    Mao, Yanling
    Shi, Qiang
    NEUROLOGICAL SCIENCES, 2015, 36 (05) : 735 - 741
  • [10] CLINICAL AND PATHOLOGICAL FEATURES OF MYOPATHY WITH ANTIBODIES TO THE SIGNAL RECOGNITION PARTICLE: REPORT ON 3 CHINESE PATIENTS
    Zhang, W.
    Wang, L.
    Yuan, Y.
    Wang, Z.
    EUROPEAN JOURNAL OF NEUROLOGY, 2011, 18 : 284 - 284