Distal myopathy caused by a homozygous mutation in the titin gene

被引:0
作者
Negrao, L. [1 ]
Penttila, S. [2 ]
Matos, A. [1 ]
Rebelo, O. [1 ]
Geraldo, A. [1 ]
Vihola, A. [3 ]
Hackman, P. [3 ]
Udd, B. [3 ]
机构
[1] Coimbra Univ Hosp, Coimbra, Portugal
[2] Univ Tampere, Neuromuscular Res Unit, FIN-33101 Tampere, Finland
[3] Univ Helsinki, Helsinki, Finland
关键词
D O I
10.1016/j.nmd.2011.06.882
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:678 / 678
页数:1
相关论文
共 50 条
  • [21] Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene
    Mendonca, BB
    Leite, MV
    de Castro, M
    Kino, T
    Elias, LLK
    Bachega, TAS
    Arnhold, IJP
    Chrousos, GP
    Latronico, C
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (04) : 1805 - 1809
  • [22] Titin mutation segregates with hereditary myopathy with early respiratory failure
    Pfeffer, Gerald
    Elliott, Hannah R.
    Griffin, Helen
    Barresi, Rita
    Miller, James
    Marsh, Julie
    Evila, Anni
    Vihola, Anna
    Hackman, Peter
    Straub, Volker
    Dick, David J.
    Horvath, Rita
    Santibanez-Koref, Mauro
    Udd, Bjarne
    Chinnery, Patrick F.
    BRAIN, 2012, 135 : 1695 - 1713
  • [23] Myofibrillar myopathy caused by a mutation in the mouse Myh4 gene
    Kuraparti, R.
    McKenna, C.
    Baker, J.
    Laval, S.
    Lochmuller, H.
    Blanco, G.
    NEUROMUSCULAR DISORDERS, 2010, 20 : S13 - S13
  • [24] Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene
    Rubio-Cabezas, O.
    Gonzalez, F. Diaz
    Aragones, A.
    Argente, J.
    Campos-Barros, A.
    PEDIATRIC DIABETES, 2008, 9 (03) : 245 - 249
  • [25] Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
    Amalia Martínez-Mir
    Eva Paloma
    Rando Allikmets
    Carmen Ayuso
    Teresa del Río
    Michael Dean
    Lluísa Vilageliu
    Roser Gonzàlez-Duarte
    Susana Balcells
    Nature Genetics, 1998, 18 : 11 - 12
  • [26] A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
    Tanboon, Jantima
    Rongsa, Kanjana
    Pithukpakorn, Manop
    Boonyapisit, Kanokwan
    Limwongse, Chanin
    Sangruchi, Tumtip
    CASE REPORTS IN NEUROLOGY, 2014, 6 (01): : 55 - 59
  • [27] Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy
    Tateyama, M
    Aoki, M
    Nishino, I
    Hayashi, YK
    Sekiguchi, S
    Shiga, Y
    Takahashi, T
    Onodera, Y
    Haginoya, K
    Kobayashi, K
    Iinuma, K
    Nonaka, I
    Arahata, K
    Itoyoma, Y
    NEUROLOGY, 2002, 58 (02) : 323 - 325
  • [28] Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
    Kim, BJ
    Ki, CS
    Kim, JW
    Sung, DH
    Choi, YC
    Kim, S
    JOURNAL OF HUMAN GENETICS, 2006, 51 (02) : 137 - 140
  • [29] Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy
    Homayoun, Houman
    Khavandgar, Simin
    Hoover, Jacqueline M.
    Mohsen, Al-Walid
    Vockley, Jerry
    Lacomis, David
    Clemens, Paula R.
    NEUROMUSCULAR DISORDERS, 2011, 21 (03) : 219 - 222
  • [30] Mutation analysis of the GNE gene in Korean patients of distal myopathy with rimmed vacuoles
    Choi, YC
    Ki, CS
    Kim, JW
    Kim, BJ
    Lee, PK
    Sung, DH
    Kim, SH
    Han, YS
    Joo, IS
    Nishino, I
    NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) : 730 - 731