Danon disease A novel mutation in the LAMP-2 gene and ophthalmic abnormality

被引：0
|
作者：
He, J. [1 ]
Wang, Y. [2 ]
Jiang, T. [1 ]
机构：
[1] Capital Med Univ, Anzhen Hosp & Inst Beijing, Key Lab Remodeling Related Cardiovasc Dis, Dept Cardiol,Minist Educ, Beijing, Peoples R China
[2] Beijing He Ping Li Hosp, Dept Cardiol, Beijing, Peoples R China
来源：
HERZ | 2014年 / 39卷 / 07期
关键词：
HYPERTROPHIC CARDIOMYOPATHY; FAMILY;
D O I：
10.1007/s00059-013-3900-5
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：877 / 879
页数：3
相关论文
共 50 条
  • [1] Danon disease: A novel mutation in the LAMP-2 gene and ophthalmic abnormality [Danon-Krankheit: Eine neue Mutation im LAMP2-Gen mit ophthalmologischen Auffälligkeiten]
    He J.
    Wang Y.
    Jiang T.
    Herz, 2014, 39 (7) : 877 - 879
  • [2] Danon disease:: A novel Lamp-2 gene mutation in a family with four affected members
    Tunon, T.
    Guerrero, D.
    Urchaga, A.
    Nishino, I.
    Ayuso, T.
    Matsuda, Y.
    Caballero, M. C.
    Berjon, J.
    Imizcoz, M. A.
    NEUROMUSCULAR DISORDERS, 2008, 18 (02) : 167 - 174
  • [3] Danon disease and a new mutation of the LAMP-2 gene in a Spanish family
    Modrego, P. J.
    Lopez-Pison, F. J.
    Alfaro, J.
    NEUROLOGIA, 2017, 32 (05): : 331 - 332
  • [4] Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
    Lobrinus, JA
    Schorderet, DF
    Payot, M
    Jeanrenaud, X
    Bottani, A
    Superti-Furga, A
    Schlaepfer, J
    Fromer, M
    Jeannet, PY
    NEUROMUSCULAR DISORDERS, 2005, 15 (04) : 293 - 298
  • [5] Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation
    Cottinet, Sarah-Louise
    Bergemer-Fouquet, Anne-Marie
    Toutain, Annick
    Sabourdy, Frederique
    Maakaroun-Vermesse, Zoha
    Levade, Thierry
    Chantepie, Alain
    Labarthe, Francois
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 (02) : 515 - 522
  • [6] Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy
    Dougu, Nobuhiro
    Joho, Shuji
    Shan, Lishen
    Shida, Takuya
    Matsuki, Akira
    Uese, Keiichiro
    Hirono, Keiichi
    Ichida, Fukiko
    Tanaka, Kortaro
    Nishino, Ichizo
    Inoue, Hiroshi
    CIRCULATION JOURNAL, 2009, 73 (02) : 376 - 380
  • [7] Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease
    Echaniz-Laguna, A
    Mohr, M
    Epailly, E
    Nishino, I
    Charron, P
    Richard, P
    Guiraud-Chaumeil, C
    Tranchant, C
    MUSCLE & NERVE, 2006, 33 (03) : 393 - 397
  • [8] Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene
    Musumeci, O
    Rodolico, C
    Nishino, I
    Di Guardo, G
    Migliorato, A
    Aguennouz, M
    Mazzeo, A
    Messina, C
    Vita, G
    Toscano, A
    NEUROMUSCULAR DISORDERS, 2005, 15 (06) : 409 - 411
  • [9] Danon's disease (X-linked vacuolar cardiomyopathy and myopathy):: a case with a novel Lamp-2 gene mutation
    Lacoste-Collin, L
    Garcia, V
    Uro-Coste, E
    Arné-Bes, MC
    Durand, D
    Levade, T
    Delisle, MB
    NEUROMUSCULAR DISORDERS, 2002, 12 (09) : 882 - 885
  • [10] Disease model:: LAMP-2 enlightens Danon disease
    Saftig, P
    Tanaka, Y
    Lüllmann-Rauch, R
    von Figura, K
    TRENDS IN MOLECULAR MEDICINE, 2001, 7 (01) : 37 - 39
12345