Distal myopathy due to BICD2 mutations

被引:7
|
作者
Souza, P. V. S. [1 ]
Pinto, W. B. V. R. [1 ]
Aivazoglou, Lais Uyeda [1 ,2 ,3 ]
Cardoso, Fabian Nassar [1 ,2 ,3 ]
Aihara, Andre Yui [1 ,2 ,3 ]
Yamada, Andre Fukunishi [1 ,2 ]
Monteiro Naylor, Fernando George [1 ]
Fernandes, A. R. C. [1 ,2 ]
Bulle Oliveira, Acary Souza [1 ]
机构
[1] Univ Fed Sao Paulo UNIFESP, Div Neuromuscular Dis, Dept Neurol & Neurosurg, Sao Paulo, SP, Brazil
[2] Univ Fed Sao Paulo UNIFESP, Dept Diagnost Imaging, Sao Paulo, SP, Brazil
[3] Diagnost Amer SA, DASA Grp, Sao Paulo, SP, Brazil
关键词
Distal myopathy; BICD2; gene; Myopathy; Muscular dystrophy; Neurogenetics; SPINAL MUSCULAR-ATROPHY; ARTHROGRYPOSIS;
D O I
10.1016/j.clineuro.2017.12.023
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:47 / 49
页数:3
相关论文
共 50 条
  • [1] Clinical spectrum of BICD2 mutations
    Frasquet, M.
    Camacho, A.
    Vilchez, R.
    Argente-Escrig, H.
    Millet, E.
    Vazquez-Costa, J. F.
    Silla, R.
    Sanchez-Monteagudo, A.
    Vilchez, J. J.
    Espinos, C.
    Lupo, V
    Sevilla, T.
    EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 (07) : 1327 - 1335
  • [2] Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
    Rossor, Alexander M.
    Oates, Emily C.
    Salter, Hannah K.
    Liu, Yang
    Murphy, Sinead M.
    Schule, Rebecca
    Gonzalez, Michael A.
    Scoto, Mariacristina
    Phadke, Rahul
    Sewry, Caroline A.
    Houlden, Henry
    Jordanova, Albena
    Tournev, Iyailo
    Chamova, Teodora
    Litvinenko, Ivan
    Zuchner, Stephan
    Herrmann, David N.
    Blake, Julian
    Sowden, Janet E.
    Acsadi, Gyuda
    Rodriguez, Michael L.
    Menezes, Manoj P.
    Clarke, Nigel F.
    Grumbach, Michaela Auer
    Bullock, Simon L.
    Muntoni, Francesco
    Reilly, Mary M.
    North, Kathryn N.
    BRAIN, 2015, 138 : 293 - 310
  • [3] Autosomal-dominant spinal muscular atrophy due to mutations in BICD2 gene in Bulgarian patients
    Peeters, K.
    Litvinenko, I.
    Chamova, T.
    Asselbergh, B.
    Almeida-Souza, L.
    Geuens, T.
    Ydens, E.
    Zimon, M.
    Irobi, J.
    De Vriendt, E.
    De Winter, V.
    Ooms, T.
    Timmerman, V.
    Tournev, I.
    Jordanova, A.
    NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 888 - 888
  • [4] Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement
    Unger, Andreas
    Dekomien, Gabriele
    Guettsches, Anne
    Dreps, Thomas
    Kley, Rudolf
    Tegenthoff, Martin
    Ferbert, Andreas
    Weis, Joachim
    Heyer, Christoph
    Linke, Wolfgang A.
    Martinez-Carrera, Lilian
    Storbeck, Markus
    Wirth, Brunhilde
    Hoffjan, Sabine
    Vorgerd, Matthias
    NEUROLOGY, 2016, 87 (21) : 2235 - 2243
  • [5] A Quantitative Model for BicD2/Cargo Interactions
    Noell, Crystal R.
    Loftus, Kyle M.
    Cui, Heying
    Grewer, Christof
    Kizer, Megan
    Debler, Erik W.
    Solmaz, Sozanne R.
    BIOCHEMISTRY, 2018, 57 (46) : 6538 - 6550
  • [6] Muscular BICD2 Syndrome is detected
    不详
    HERZ, 2018, 43 (07) : 627 - 627
  • [7] Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype
    Synofzik, Matthis
    Martinez-Carrera, Lilian A.
    Lindig, Tobias
    Schoels, Ludger
    Wirth, Brunhilde
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (05): : 590 - 592
  • [8] Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
    Oates, Emily C.
    Rossor, Alexander M.
    Hafezparast, Majid
    Gonzalez, Michael
    Speziani, Fiorella
    MacArthur, Daniel G.
    Lek, Monkol
    Cottenie, Ellen
    Scoto, Mariacristina
    Foley, A. Reghan
    Hurles, Matthew
    Houlden, Henry
    Greensmith, Linda
    Auer-Grumbach, Michaela
    Pieber, Thomas R.
    Strom, Tim M.
    Schule, Rebecca
    Herrmann, David N.
    Sowden, Janet E.
    Acsadi, Gyula
    Menezes, Manoj P.
    Clarke, Nigel F.
    Zuechner, Stephan
    Muntoni, Francesco
    North, Kathryn N.
    Reilly, Mary M.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (06) : 965 - 973
  • [9] CLINICAL AND MAGNETIC RESONANCE IMAGING FEATURES OF THREE NOVEL MUTATIONS IN THE BICD2 GENE
    Frasquet, M.
    Lupo, V
    Mas, F.
    Vilchez, R.
    Chumillas, M. J.
    Espinos, C.
    Sevilla, T.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 284 - 284
  • [10] Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein
    Martinez-Carrera, Lilian A.
    Wirth, Brunhilde
    FRONTIERS IN NEUROSCIENCE, 2015, 9