CHARCOT-MARIE-TOOTH DISEASE TYPE 1A - MUTATIONAL MECHANISMS AND CANDIDATE GENE

被引：7
|
作者：
PATEL, PI [1 ]
机构：
[1] BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
来源：
CURRENT OPINION IN GENETICS & DEVELOPMENT | 1993年 / 3卷 / 03期
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1016/0959-437X(93)90118-9
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
Charcot-Marie-Tooth disease type 1A, the most common inherited peripheral neuropathy, is associated with a submicroscopic DNA duplication of 1.5 Mb that can arise de novo, and which is flanked by a >17 kb mosaic repeat. The PMP22 gene, encoding a peripheral myelin protein, maps within the duplication. In a subset of Charcot-Marie-Tooth patients, point mutations can occur within the gene. Thus, the alternative mechanisms of overexpression of PMP22 and structural alterations in the protein encoded can cause the disease phenotype.
引用
收藏
页码：438 / 444
页数：7
相关论文
共 50 条
  • [1] Overview of Charcot-Marie-Tooth disease type 1A
    Thomas, PK
    CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 : 1 - 5
  • [2] A gene silencing approach to treat Charcot-Marie-Tooth disease type 1A
    Stavrou, Marina
    Sargannidou, Irene
    Kagiava, Alexia
    Richter, Jan
    Tryfonos, Christina
    Karaiskos, Christos
    Lapathitis, George
    Christodoulou, Christina
    Kleopa, Kleopas
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 (04) : 291 - 292
  • [3] MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A
    Wang, Hongge
    Davison, Matthew
    Wang, Kathryn
    Xia, Tai-he
    Call, Katherine M.
    Luo, Jun
    Wu, Xingyao
    Zuccarino, Riccardo
    Bacha, Alexa
    Bai, Yunhong
    Gutmann, Laurie
    Feely, Shawna M. E.
    Grider, Tiffany
    Rossor, Alexander M.
    Reilly, Mary M.
    Shy, Michael E.
    Svaren, John
    NEUROLOGY, 2021, 97 (05) : E489 - E500
  • [4] Atypical phenotype of Charcot-Marie-Tooth disease type 1A
    Murakami, T
    OOmori, H
    Hara, A
    Uyama, E
    Mita, S
    Uchino, M
    MUSCLE & NERVE, 1999, 22 (11) : 1593 - 1596
  • [5] Animal models of Charcot-Marie-Tooth disease type 1A
    M. W. Sereda
    K. -A. Nave
    NeuroMolecular Medicine, 2006, 8 : 205 - 215
  • [6] Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A
    Kashork, CD
    Chen, KS
    Lupski, JR
    Shaffer, LG
    CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 : 457 - 459
  • [7] Animal models of Charcot-Marie-Tooth disease type 1A
    Sereda, M. W.
    Nave, K. -A.
    NEUROMOLECULAR MEDICINE, 2006, 8 (1-2) : 205 - 215
  • [8] Neuropathy progression in Charcot-Marie-Tooth disease type 1A
    Shy, M. E.
    Chen, L.
    Swan, E. R.
    Taube, R.
    Krajewski, K. M.
    Herrmann, D.
    Lewis, R. A.
    McDermott, M. P.
    NEUROLOGY, 2008, 70 (05) : 378 - 383
  • [9] BIOMARKERS IN CHARCOT-MARIE-TOOTH DISEASE 1A
    Fledrich, R.
    Mannil, M.
    Leha, A.
    Solari, A.
    Pelayo-Negro, A. L.
    Berciano, J.
    Schlotter-Weigel, B.
    Schnizer, T. J.
    Angarita, N. G.
    Haberlova, J.
    Mazanec, R.
    Paulus, Walter
    Beissbarth, T.
    Walter, M. C.
    Hogrel, J. Y.
    Dubourg, O.
    Schenone, A.
    Baets, J.
    De Jonghe, P.
    Shy, M. E.
    Horvath, R.
    Pareyson, D.
    Seeman, P.
    Young, P.
    Sereda, M. W.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 256 - 257
  • [10] Pes cavus pathogenesis in Charcot-Marie-Tooth disease type 1A
    Berciano, J
    Gallardo, E
    García, A
    Combarros, O
    BRAIN, 2006, 129
12345