Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods

被引：0
|
作者：
Tasca, G. [1 ]
Fattori, F. [2 ]
Monforte, M. [1 ]
Hedberg-Oldfors, C. [3 ]
Sabatelli, M. [1 ]
Udd, B. [4 ]
Boldrini, R. [2 ]
Bertini, E. [2 ]
Ricci, E. [1 ]
Oldfors, A. [3 ]
机构：
[1] Univ Cattolica Sacro Cuore, Rome, Italy
[2] Bambino Gesu Childrens Res Hosp, Rome, Italy
[3] Univ Gothenburg, Gothenburg, Sweden
[4] Univ Helsinki, Helsinki, Finland
来源：
NEUROMUSCULAR DISORDERS | 2016年 / 26卷
关键词：
D O I：
10.1016/j.nmd.2016.06.411
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P.382
引用
收藏
页码：S199 / S200
页数：2
相关论文
共 50 条
  • [1] Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods
    Tasca, G.
    Fattori, F.
    Monforte, M.
    Hedberg-Oldfors, C.
    Sabatelli, M.
    Udd, B.
    Bertini, E.
    Ricci, E.
    Oldfors, A.
    EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 827 - 827
  • [2] Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods
    Giorgio Tasca
    Fabiana Fattori
    Mauro Monforte
    Carola Hedberg-Oldfors
    Mario Sabatelli
    Bjarne Udd
    Renata Boldrini
    Enrico Bertini
    Enzo Ricci
    Anders Oldfors
    Journal of Neurology, 2016, 263 : 2133 - 2135
  • [3] Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods
    Tasca, Giorgio
    Fattori, Fabiana
    Monforte, Mauro
    Hedberg-Oldfors, Carola
    Sabatelli, Mario
    Udd, Bjarne
    Boldrini, Renata
    Bertini, Enrico
    Ricci, Enzo
    Oldfors, Anders
    JOURNAL OF NEUROLOGY, 2016, 263 (10) : 2133 - 2135
  • [4] Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
    Akman, H. Orhan
    Aykit, Yavuz
    Amuk, Ozge Ceren
    Malfatti, Edoardo
    Romero, Norma B.
    Maioli, Maria Antonietta
    Piras, Rachele
    DiMauro, Salvatore
    Marrosu, Gianni
    NEUROMUSCULAR DISORDERS, 2016, 26 (01) : 16 - 20
  • [5] Polyglucosan myopathy and functional characterization of a novel GYG1 mutation
    Hedberg-Oldfors, C.
    Mensch, A.
    Visuttijai, K.
    Stoltenburg, G.
    Stoevesandt, D.
    Kraya, T.
    Oldfors, A.
    Zierz, S.
    ACTA NEUROLOGICA SCANDINAVICA, 2018, 137 (03): : 308 - 315
  • [6] GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
    Desikan, Mahalekshmi
    Scalco, Renata Siciliani
    Manole, Andreea
    Gardiner, Alice R.
    Schapira, Anthony H.
    Lachmann, Robin H.
    Houlden, Henry
    Holton, Janice L.
    Phadke, Rahul
    Quinlivan, Ros
    NEUROMUSCULAR DISORDERS, 2018, 28 (04) : 346 - 349
  • [7] GYG1 GENE MUTATIONS IN A FAMILY WITH POLYGLUCOSAN BODY MYOPATHY
    Fanin, Marina
    Torella, Annalaura
    Savarese, Marco
    Nigro, Vincenzo
    Angelini, Corrado
    NEUROLOGY-GENETICS, 2015, 1 (03)
  • [8] Sporadic late-onset Nemaline myopathy
    Naddaf, E.
    Milone, M.
    Kansagra, A.
    Buadi, F.
    Kourelis, T.
    NEUROMUSCULAR DISORDERS, 2018, 28 : S78 - S78
  • [9] Sporadic Late-Onset Nemaline Myopathy
    Naddaf, Elie
    Milone, Margherita
    Kansagra, Ankit
    Buadi, Francis
    Kourelis, Taxiarchis
    NEUROLOGY, 2018, 90
  • [10] Sporadic late-onset nemaline myopathy (SLONM)
    Chahin, N
    Engel, AG
    NEUROLOGY, 2005, 64 (06) : A340 - A340
12345