Spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations in children

被引:0
|
作者
Kulshrestha, R. [1 ]
Sewry, C. [1 ]
Muntoni, F. [2 ]
Willis, T. [1 ]
Munot, P. [2 ]
机构
[1] Robert Jones & Agnes Hunt Orthopaed Hosp, Oswestry, Shrops, England
[2] UCL Great Ormond St Inst Child Hlth, London, England
关键词
D O I
10.1016/j.nmd.2017.06.156
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P.126
引用
收藏
页码:S134 / S135
页数:2
相关论文
共 50 条
  • [1] Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
    Rudnik-Schoeneborn, Sabine
    Deden, Florian
    Eggermann, Katja
    Eggermann, Thomas
    Wieczorek, Dagmar
    Sellhaus, Bernd
    Yamoah, Alfred
    Goswami, Anand
    Claeys, Kristl G.
    Weis, Joachim
    Zerres, Klaus
    MUSCLE & NERVE, 2016, 54 (03) : 496 - 500
  • [2] Lower Extremity Predominant Spinal Muscular Atrophy Caused by BICD2 Gene Mutation
    Acsadi, G.
    Pgemiller, K.
    Ounpuu, S.
    ANNALS OF NEUROLOGY, 2014, 76 : S233 - S233
  • [3] A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation
    Ueda, Yuki
    Suganuma, Takashi
    Narumi-Kishimoto, Yoko
    Kaname, Tadashi
    Sato, Tomonobu
    BRAIN & DEVELOPMENT, 2021, 43 (01): : 135 - 139
  • [4] A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2
    Tumurkhuu, Munkhtuya
    Batbuyan, Uranchimeg
    Yuzawa, Satoru
    Munkhsaikhan, Yanjinlkham
    Batmunkh, Ganbayar
    Nishimura, Wataru
    INTRACTABLE & RARE DISEASES RESEARCH, 2021, 10 (02) : 102 - 108
  • [5] A SEVERE SPINAL MUSCULAR ATROPHY PHENOTYPE ASSOCIATED WITH A NOVEL BICD2 MUTATION
    Kichula, E. A.
    Medne, L.
    Zackai, E. H.
    Estilow, T.
    Harding, B.
    Banwell, B.
    Yum, S. W.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 269 - 269
  • [6] 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
  • [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] Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2
    Fiorillo, C.
    Moro, F.
    Brisca, G.
    Accogli, A.
    Trucco, F.
    Trovato, R.
    Pedemonte, M.
    Severino, M.
    Catala, M.
    Capra, V.
    Santorelli, F. M.
    Bruno, C.
    Rossi, A.
    Minetti, C.
    EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 (04) : e19 - e21
  • [9] 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
  • [10] 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