Dominant distal myopathy due to slow channelopathy

被引:0
|
作者
Angelini, C. [1 ]
Vazza, G. [1 ]
Mostacciuolo, M. L. [1 ]
机构
[1] Univ Padua, Padua, Italy
关键词
D O I
10.1016/j.nmd.2013.06.584
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:805 / 805
页数:1
相关论文
共 50 条
  • [1] An autosomal dominant distal myopathy
    Hu, J.
    Zhao, Z.
    NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 819 - 819
  • [2] Autosomal dominant distal myopathy not linked to the known distal myopathy loci
    Felice, KJ
    Meredith, C
    Binz, N
    Butler, A
    Jacob, R
    Akkari, P
    Hallmayer, J
    Laing, N
    NEUROMUSCULAR DISORDERS, 1999, 9 (02) : 59 - 65
  • [3] Autosomal dominant distal myopathy due to a novel ACTA1 mutation
    Liewluck, Teerin
    Sorenson, Eric J.
    Walkiewicz, Magdalena A.
    Rumilla, Kandelaria M.
    Milone, Margherita
    NEUROMUSCULAR DISORDERS, 2017, 27 (08) : 742 - 746
  • [4] INFANTILE AUTOSOMAL-DOMINANT DISTAL MYOPATHY
    SCOPPETTA, C
    CASALI, C
    LACESA, I
    SERMONI, A
    MERCURI, B
    PIERELLI, F
    VACCARIO, ML
    ACTA NEUROLOGICA SCANDINAVICA, 1995, 92 (02): : 122 - 126
  • [5] Dominant collagen XII mutations cause a distal myopathy
    Mohassel, Payam
    Liewluck, Teerin
    Hu, Ying
    Ezzo, Daniel
    Ogata, Tracy
    Saade, Dimah
    Neuhaus, Sarah
    Bolduc, Veronique
    Zou, Yaqun
    Donkervoort, Sandra
    Medne, Livija
    Sumner, Charlotte J.
    Dyck, P. James B.
    Wierenga, Klaas J.
    Tennekoon, Gihan
    Finkel, Richard S.
    Chen, Jiani
    Winder, Thomas L.
    Staff, Nathan P.
    Foley, A. Reghan
    Koch, Manuel
    Bonnemann, Carsten G.
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2019, 6 (10): : 1980 - 1988
  • [6] Autosomal dominant distal myopathy not linked to chromosome 14
    Felice, K
    Meredith, C
    Binz, N
    Butler, A
    Akkari, P
    Laing, N
    BRAIN PATHOLOGY, 1997, 7 (04) : 1372 - 1372
  • [7] NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHY
    Pitceathly, R. D. S.
    Tomlinson, S. E.
    Hargreaves, I
    Bhardwaj, N.
    Holton, J. L.
    Evans, J.
    Smith, C.
    Fratter, C.
    Woodward, C.
    Sweeney, M. G.
    Hanna, M. G.
    Rahman, S.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S119 - S119
  • [8] Distal myopathy with rimmed vacuoles presenting with slow progression
    Sakai, Y.
    Manabe, Y.
    Fujii, D.
    Kono, S.
    Narai, H.
    Omori, N.
    Monma, K.
    Nishino, I.
    Abe, K.
    NEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 620 - 620
  • [9] Autosomal dominant late adult onset distal leg myopathy
    Pénisson-Besnier, I
    Dumez, C
    Chateau, D
    Dubas, F
    Fardeau, M
    NEUROMUSCULAR DISORDERS, 1998, 8 (07) : 459 - 466
  • [10] A Kelch protein is mutated in a novel amosomal dominant distal myopathy
    Cirak, S
    von Deimling, F
    Hinderlich, S
    Sandri, M
    Boennemann, C
    Hoffmann, K
    Lindner, T
    Stembrecher, A
    Herrmann, R
    Nuernberg, P
    Voit, T
    NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) : 717 - 717