Autosomal dominant nemaline myopathy with marked intrafamilial phenotypic variability

被引：0
|
作者：
Park, J. S. [1 ]
Shin, J. H. [1 ]
Hwang, S. J. [1 ]
Kim, D. S. [1 ]
机构：
[1] Pusan Natl Univ, Yangsan Hosp, Dept Neurol, Yangsan, South Korea
来源：
NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 9-10期
关键词：
D O I：
10.1016/j.nmd.2013.06.515
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：783 / 784
页数：2
相关论文
共 50 条
  • [1] A new phenotype of autosomal dominant nemaline myopathy
    Gommans, IMP
    van Engelen, BGM
    ter Laak, HJ
    Brunner, HG
    Kremer, H
    Lammens, M
    Vogels, OJM
    NEUROMUSCULAR DISORDERS, 2002, 12 (01) : 13 - 18
  • [2] Autosomal dominant myopathy with central cores and nemaline rods
    Subramony, SH
    Schacheri, P
    Vedanarayanan, VV
    NEUROLOGY, 1999, 52 (06) : A330 - A330
  • [3] Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation
    Kiphuth, I. C.
    Krause, S.
    Huttner, H. B.
    Dekomien, G.
    Struffert, T.
    Schroeder, R.
    JOURNAL OF NEUROLOGY, 2010, 257 (04) : 658 - 660
  • [4] Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation
    I. C. Kiphuth
    S. Krause
    H. B. Huttner
    G. Dekomien
    T. Struffert
    R. Schröder
    Journal of Neurology, 2010, 257 : 658 - 660
  • [5] Autosomal dominant cataract: Intrafamilial phenotypic variability, interocular asymmetry, and variable progression in four Chilean families
    Shafie, SM
    von-Bischhoffshausen, FRB
    Bateman, JB
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2006, 141 (04) : 750 - 752
  • [6] Autosomal dominant Robinow syndrome in 11 affected family members: Marked phenotypic variability.
    Kostiner, D
    Cox, V
    Golabi, M
    Hoyme, HE
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 301 - 301
  • [7] A Japanese Family of a Novel Autosomal Dominant Nemaline Myopathy Associated with Dilated Cardiomyopathy
    Ichikawa, Yaeko
    Ishiura, Hiroyuki
    Goto, Jun
    Kowa, Hisatomo
    Oya, Yasushi
    Date, Hidetoshi
    Tsuji, Shoji
    NEUROLOGY, 2011, 76 (09) : A283 - A283
  • [8] ASSIGNMENT OF A GENE (NEMI) FOR AUTOSOMAL DOMINANT NEMALINE MYOPATHY TO CHROMOSOME-I
    LAING, NG
    MAJDA, BT
    AKKARI, PA
    LAYTON, MG
    MULLEY, JC
    PHILLIPS, H
    HAAN, EA
    WHITE, SJ
    BEGGS, AH
    KUNKEL, LM
    GROTH, DM
    BOUNDY, KL
    KNEEBONE, CS
    BLUMBERG, PC
    WILTON, SD
    SPEER, MC
    KAKULAS, BA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1992, 50 (03) : 576 - 583
  • [9] Novel autosomal dominant TNNT1 mutation causing nemaline myopathy
    Konersman, Chamindra G.
    Freyermuth, Fernande
    Winder, Thomas L.
    Lawlor, Michael W.
    Lagier-Tourenne, Clotilde
    Patel, Shailendra B.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2017, 5 (06): : 678 - 691
  • [10] INTRAFAMILIAL PHENOTYPIC-EXPRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE
    MILUTINOVIC, J
    RUST, PF
    FIALKOW, PJ
    AGODOA, LY
    PHILLIPS, LA
    RUDD, TG
    SUTHERLAND, S
    AMERICAN JOURNAL OF KIDNEY DISEASES, 1992, 19 (05) : 465 - 472
12345