Myotilin mutations cause myofibrillar myopathy

被引:0
|
作者
Selcen, D [1 ]
Engel, AG [1 ]
机构
[1] Mayo Clin, Rochester, MN USA
关键词
D O I
暂无
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:563 / 563
页数:1
相关论文
共 50 条
  • [21] Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases
    Dhawan, Priya S.
    Liewluck, Teerin
    Knapik, Joseph
    Milone, Margherita
    MUSCLE & NERVE, 2018, 57 (05) : E124 - E126
  • [22] Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
    Bevilacqua, J. A.
    Monnier, N.
    Bitoun, M.
    Eymard, B.
    Ferreiro, A.
    Monges, S.
    Lubieniecki, F.
    Taratuto, A. L.
    Laquerriere, A.
    Claeys, K. G.
    Marty, I.
    Fardeau, M.
    Guicheney, P.
    Lunardi, J.
    Romero, N. B.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2011, 37 (03) : 271 - 284
  • [23] Myofibrillar myopathy caused by novel dominant negative αB-crystallin mutations
    Selcen, D
    Engel, AG
    ANNALS OF NEUROLOGY, 2003, 54 (06) : 804 - 810
  • [24] Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations
    Kley, Rudolf A.
    van der Ven, Peter F. M.
    Olive, Montse
    Hoehfeld, Joerg
    Goldfarb, Lev G.
    Fuerst, Dieter O.
    Vorgerd, Matthias
    AUTOPHAGY, 2013, 9 (03) : 422 - 423
  • [25] Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort
    de Siqueira Carvalho, Alzira Alves
    Lacene, Emmanuele
    Brochier, Guy
    Labasse, Clemance
    Madelaine, Angeline
    da Silva, Vinicius Gomes
    Corazzini, Roseli
    Papadopoulos, Konstantinos
    Behin, Anthony
    Laforet, Pascal
    Stojkovic, Tania
    Eymard, Bruno
    Fardeau, Michel
    Romero, Norma
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 22 (06) : 374 - 383
  • [26] Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
    Pfeffer, Gerald
    Barresi, Rita
    Wilson, Ian J.
    Hardy, Steven A.
    Griffin, Helen
    Hudson, Judith
    Elliott, Hannah R.
    Ramesh, Aravind V.
    Radunovic, Aleksandar
    Winer, John B.
    Vaidya, Sujit
    Raman, Ashok
    Busby, Mark
    Farrugia, Maria E.
    Ming, Alec
    Everett, Chris
    Emsley, Hedley C. A.
    Horvath, Rita
    Straub, Volker
    Bushby, Kate
    Lochmueller, Hanns
    Chinnery, Patrick F.
    Sarkozy, Anna
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (03): : 331 - 338
  • [27] Novel FHL1 mutations in fatal and benign reducing body myopathy, rigid spine and myofibrillar myopathy
    Shalaby, S.
    Quinzii, C. M.
    Hayashi, Y. K.
    Goto, K.
    Nonaka, I.
    Noguchi, S.
    Hirano, M.
    Nishino, I.
    JOURNAL OF NEUROLOGY, 2010, 257 : S168 - S169
  • [28] 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
  • [29] 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
  • [30] Mutations in dynamin 2 cause dominant centronuclear myopathy
    Bitoun, M
    Maugenre, S
    Jeannet, PY
    Lacène, E
    Ferrer, X
    Laforêt, P
    Martin, JJ
    Laporte, J
    Lochmüller, H
    Beggs, AH
    Fardeau, M
    Eymard, B
    Romero, NB
    Guicheney, P
    NATURE GENETICS, 2005, 37 (11) : 1207 - 1209