ACTA1-related myopathies: expanding the phenotype to include recognizable asymmetries of muscle involvement

被引：0
|
作者：
Foley, A. [1 ]
Ferranti, S. [1 ]
Saade, D. [1 ]
Mohassel, P. [1 ]
Donkervoort, S. [1 ]
Medne, L. [2 ]
Dastgir, J. [1 ]
Bharucha-Goebel, D. [1 ]
Meilleur, K. [1 ]
Leach, M. [1 ]
Scavina, M. [3 ]
Yum, S. [2 ]
Tennekoon, G. [2 ]
Bonnemann, C. [1 ]
机构：
[1] NIH, Bldg 10, Bethesda, MD 20892 USA
[2] Childrens Hosp Phila, Philadelphia, PA USA
[3] Nemours Alfred I duPont Hosp, Wilmington, DE USA
来源：
NEUROMUSCULAR DISORDERS | 2020年 / 30卷
关键词：
D O I：
10.1016/j.nmd.2020.08.027
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P.19
引用
收藏
页码：S53 / S53
页数：1
相关论文
共 50 条
  • [1] ACTA1-related cardiomyopathy: emerging genotypic and phenotypic patterns among patients with ACTA1-related myopathy with cardiac involvement
    McAnally, M.
    Potticary, A.
    Hayes, L.
    Clayton, J.
    Haliloglu, G.
    Donkervoort, S.
    Yang, M.
    Gibbons, M.
    Gross, B.
    Foley, A.
    Guglieri, M.
    Lee, T.
    Munot, P.
    Sarkozy, A.
    Muntoni, F.
    Straub, V.
    Laing, N.
    Beggs, A.
    Bonnemann, C.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [2] ACTA1-related cardiomyopathy: emerging genotypic and phenotypic patterns among patients with ACTA1-related myopathy with cardiac involvement
    McAnally, M. M.
    Potticary, A.
    Hayes, L. H.
    Clayton, J.
    Haliloglu, G.
    Donkervoort, S.
    Yang, M.
    Gibbons, M.
    Gross, B.
    Matesanz, S.
    Medne, L.
    Yum, S.
    Yun, P.
    Ghaoui, R.
    Quinn, Haberlova J. C.
    Dilley, R.
    Leach, M.
    Chatfield, K.
    Saade, D.
    Foley, A.
    Guglieri, M.
    Lee, T.
    Munot, P.
    Sarkozy, A.
    Muntoni, F.
    Straub, V
    Laing, N.
    Beggs, A.
    Bonnemann, C.
    ANNALS OF NEUROLOGY, 2025, 96 : S127 - S127
  • [3] MUSCLE MAGNETIC RESONANCE IMAGING AND HISTOPATHOLOGY IN ACTA1-RELATED CONGENITAL NEMALINE MYOPATHY
    Castiglioni, Claudia
    Cassandrini, Denis
    Fattori, Fabiana
    Bellacchio, Emanuele
    D'Amico, Adele
    Alvarez, Karin
    Gejman, Roger
    Diaz, Jorge
    Santorelli, Filippo M.
    Romero, Norma B.
    Bertini, Enrico
    Bevilacqua, Jorge A.
    MUSCLE & NERVE, 2014, 50 (06) : 1011 - 1016
  • [4] The pathogenesis of ACTA1-related congenital fiber type disproportion
    Clarke, Nigel F.
    Ilkovski, Biljana
    Cooper, Sandra
    Valova, Valentina A.
    Robinson, Phillip J.
    Nonaka, Ikuya
    Feng, Juan-Juan
    Marston, Steven
    North, Kathryn
    ANNALS OF NEUROLOGY, 2007, 61 (06) : 552 - 561
  • [5] ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings
    Malfatti, E.
    Monges, S.
    Lornage, X.
    Abath-Neto, O.
    Bohm, J.
    Joureau, B.
    De Winter, J.
    Rendu, J.
    Quijano-Roy, S.
    Brochier, G.
    Lubieniecki, F.
    Madelaine, A.
    Chanut, A.
    Estournet, B.
    Eymard, B.
    Ottenheijm, C.
    Taratuto, A.
    Laporte, J.
    Fardeau, M.
    Romero, N.
    NEUROMUSCULAR DISORDERS, 2016, 26 : S133 - S133
  • [6] Neuromuscular junction defects in ACTA1-related nemaline myopathy
    Bogni, C.
    Girard, E.
    Poulard, K.
    Brochier, G.
    Errazuriz-Cerda, E.
    Cosette, J.
    Labasse, C.
    Madelaine, A.
    Lia Taratuto, A.
    Messaddeq, N.
    Schaeffer, L.
    Romero, N.
    Buj-Bello, A.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S61 - S62
  • [7] Investigating the pathogenesis of ACTA1-related congenital fibre type disproportion
    Clarke, Nigel
    Ilkovski, Biljana
    Nonaka, Ikuya
    Feng, Juan-Juan
    Marston, Steven
    North, Kathryn
    NEUROMUSCULAR DISORDERS, 2006, 16 : S61 - S61
  • [8] Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)
    Joureau, Barbara
    de Winter, Josine Marieke
    Conijn, Stefan
    Bogaards, Sylvia J. P.
    Kovacevic, Igor
    Kalganov, Albert
    Persson, Malin
    Lindqvist, Johan
    Stienen, Ger J. M.
    Irving, Thomas C.
    Ma, Weikang
    Yuen, Michaela
    Clarke, Nigel F.
    Rassier, Dilson E.
    Malfatti, Edoardo
    Romero, Norma B.
    Beggs, Alan H.
    Ottenheijm, Coen A. C.
    ANNALS OF NEUROLOGY, 2018, 83 (02) : 269 - 282
  • [9] Expanding the clinical and genetic phenotype of TPM2-related myopathies
    Dowling, J. J.
    Davidson, A. E.
    Lopez, M. E.
    Siddiqui, F. M.
    Lunt, P.
    Li, J. Z.
    Jungbluth, H.
    Love, S.
    Moore, S. A.
    NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 810 - 810
  • [10] Severe forms of ACTA1-related nemaline myopathy: Reassessment of the morphological, clinical and molecular aspects
    Labasse, C.
    Brochier, G.
    Rendu, J.
    Bohm, J.
    Monges, S.
    Quijano-Roy, S.
    Amthor, H.
    Servais, L.
    Madelaine, A.
    Lacene, E.
    Bui, M.
    Coppens, S.
    Biancalana, V.
    Lubieniecki, F.
    Laing, N.
    Taratuto, A.
    Buj-Bello, A.
    Evangelista, T.
    Laporte, J.
    Romero, N.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S59 - S59
12345