Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A

被引:0
|
作者
Warner, LE
Roa, BB
Lupski, JR
机构
[1] BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOUSTON,TX 77030
[2] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030
[3] BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030
关键词
D O I
10.1002/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:362 / 365
页数:4
相关论文
共 50 条
  • [1] Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A
    Haney, C
    Snipes, GJ
    Shooter, EM
    Suter, U
    Garcia, C
    Griffin, JW
    Trapp, BD
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1996, 55 (03): : 290 - 299
  • [2] NEW PERIPHERAL MYELIN PROTEIN 22 (PMP22) TRANSCRIPTIONAL VARIANTS IN CHARCOT-MARIE-TOOTH TYPE 1A (CMT1A) NEUROPATHY
    Visigalli, D.
    Fiorina, E.
    Mancardi, G. L.
    Santoro, L.
    Pareyson, D.
    Schenone, A.
    Nobbio, L.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 : S144 - S145
  • [3] Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22
    Jones, Erin A.
    Brewer, Megan H.
    Srinivasan, Rajini
    Krueger, Courtney
    Sun, Guannan
    Charney, Kira N.
    Keles, Sunduz
    Antonellis, Anthony
    Svaren, John
    HUMAN MOLECULAR GENETICS, 2012, 21 (07) : 1581 - 1591
  • [4] PMP22 GENE DOSAGE AS A MECHANISM FOR CMT1A
    WARNER, LE
    ROA, BB
    LUPSKI, JR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1471 - 1471
  • [5] Association of Charcot-Marie-Tooth disease type 1A (CMT1A) and multiple sclerosis (MS): PMP22 is an exclusive candidate for peripheral neuropathies.
    Rautenstrauss, B
    Liehr, T
    May-Wehof, U
    Moller, P
    Sertic, J
    Sostarko, M
    Grehl, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A319 - A319
  • [6] DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE 1A NEUROPATHY
    ROA, BB
    GREENBERG, F
    GUNARATNE, P
    SAUER, CM
    LUBINSKY, MS
    KOZMA, C
    MECK, JM
    MAGENIS, RE
    SHAFFER, LG
    LUPSKI, JR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 171 - 171
  • [7] CHARCOT-MARIE-TOOTH DISEASE TYPE 1A - MORPHOLOGICAL PHENOTYPE OF THE 17P DUPLICATION VERSUS PMP22 POINT MUTATIONS
    GABREELSFESTEN, AAWM
    BOLHUIS, PA
    HOOGENDIJK, JE
    VALENTIJN, LJ
    ESHUIS, EJHM
    GABREELS, FJM
    ACTA NEUROPATHOLOGICA, 1995, 90 (06) : 645 - 649
  • [8] Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)
    Sander, S
    Nicholson, GA
    Ouvrier, RA
    McLeod, JG
    Pollard, JD
    MUSCLE & NERVE, 1998, 21 (02) : 217 - 225
  • [9] Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A
    Corrado, Giovanni
    Checcarelli, Nicoletta
    Santarone, Mauro
    Stoellberger, Claudia
    Finsterer, Josef
    CARDIOLOGY, 2006, 105 (03) : 142 - 145
  • [10] Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication
    Liu, Xing
    Ishikawa, Kei-ichi
    Hattori, Nobutaka
    Akamatsu, Wado
    STEM CELL RESEARCH, 2024, 77