Clinical and genetic spectrum of GNE myopathy in a neuromuscular cohort in northern India

被引:0
|
作者
Rani, N. [1 ]
Macken, W. [2 ,3 ]
Reyaz, A. [1 ]
Ahmad, T. [1 ]
Tarane, K. [1 ]
Danish, M. [1 ]
Bhatia, R. [1 ]
Pitceathly, R. [2 ,3 ]
Thangaraj, K. [4 ,6 ]
Topf, A. [7 ,8 ]
Straub, V. [7 ,8 ]
Srivastava, P. [1 ]
Hanna, M. [2 ,3 ]
Venugopalan, Y. V. [1 ]
机构
[1] All India Inst Med Sci, New Delhi, India
[2] UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
[3] Natl Hosp Neurol & Neurosurg, NHS Highly Specialised Serv Rare Mitochondrial Di, Queen Sq Ctr Neuromuscular Dis, London, England
[4] Ctr DNA Fingerprinting & Diagnost, Hyderabad, India
[5] UCL, London, England
[6] Ctr Cellular Mol Biol, Hyderabad, India
[7] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
[8] Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England
关键词
D O I
10.1016/j.nmd.2024.07.422
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
59P
引用
收藏
页数:1
相关论文
共 50 条
  • [31] Clinical, genetic and neuropathological heterogeneity in a pediatric cohort with nemaline myopathy
    Martins, J.
    Oliveira, J.
    Taipa, R.
    Garrido, C.
    Melo Pires, M.
    Santos, M.
    NEUROMUSCULAR DISORDERS, 2018, 28 : S100 - S100
  • [32] Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea
    Lee, Jong-Mok
    Lim, Jeong Geun
    Shin, Jin-Hong
    Park, Young-Eun
    Kim, Dae-Seong
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 383 : 61 - 68
  • [33] Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis
    Ohno, Kinji
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (08): : 832 - 832
  • [34] Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing
    Cerino, M.
    Gorokhova, S.
    Laforet, P.
    Ben Yaou, R.
    Salort-Campana, E.
    Pouget, J.
    Attarian, S.
    Eymard, B.
    Deleuze, J.
    Boland, A.
    Behin, A.
    Stojkovic, T.
    Bonne, G.
    Levy, N.
    Bartoli, M.
    Krahn, M.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S149 - S149
  • [35] Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
    Wang, Qi
    Hu, Zhenxian
    Chang, Xingzhi
    Yu, Meng
    Xie, Zhiying
    Lv, He
    Zhang, Wei
    Xiong, Hui
    Yuan, Yun
    Wang, Zhaoxia
    CLINICAL GENETICS, 2020, 97 (06) : 878 - 889
  • [36] Genetic and clinical heterogeneity of mito-neuromuscular diseases in India
    Periyasamy, Govindaraj
    Khan, Nahid A.
    Vanniarajan, A.
    Megha, U.
    Sundaram, C.
    Meena, A. K.
    Gayathri, N.
    Singh, Riche
    Dinesh, N.
    Rajshekher, G. P.
    Elango, E. M.
    Singh, Laiji
    Thangaraj, K.
    NEUROSCIENCE RESEARCH, 2009, 65 : S39 - S39
  • [37] Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
    Luo, Yue-Bei
    Peng, Yuyao
    Lu, Yuling
    Li, Qiuxiang
    Duan, Huiqian
    Bi, Fangfang
    Yang, Huan
    FRONTIERS IN NEUROLOGY, 2020, 11
  • [38] The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
    Han, Jingzhe
    Lu, Shan
    Song, Xueqin
    Ji, Guang
    Xie, Yanan
    Wu, Hongran
    TURKISH JOURNAL OF MEDICAL SCIENCES, 2022, 52 (04) : 1256 - 1265
  • [39] GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description
    Alrohaif, Hadil
    Pogoryelova, Oksana
    Al-Ajmi, Abdullah
    Aljeryan, Lulwa A.
    Alrashidi, Nuwayer H.
    Alefasi, Sara A.
    Urtizberea, Andoni
    Lochmueller, Hanns
    Bastaki, Laila
    MUSCLE & NERVE, 2018, 58 (05) : 700 - 707
  • [40] Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients
    Lu, Xianghui
    Pu, Chuanqiang
    Huang, Xusheng
    Liu, Jiexiao
    Mao, Yanling
    NEUROLOGICAL RESEARCH, 2011, 33 (10) : 1025 - 1031