X-LINKED MYOTUBULAR MYOPATHY

被引：0
|
作者：
ILYINA, NA [1 ]
AVERIYANOV, YN [1 ]
POTOMSKAYA, LZ [1 ]
IVANCHENKO, OV [1 ]
BIRYUKOV, VB [1 ]
机构：
[1] IM SECHENOV MED INST,CENT RES LAB,DEPT MED GENET,MOSCOW,USSR
来源：
ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA | 1979年 / 79卷 / 10期
关键词：
D O I：
暂无
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：1334 / 1338
页数：5
相关论文
共 50 条
  • [31] X-linked myotubular myopathy: a report of five cases
    Coelho, J.
    Santos, T. Proenca
    Moreno, T.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S171 - S172
  • [32] X-LINKED MYOTUBULAR MYOPATHY IN A SYMPTOMATIC FEMALE CARRIER
    Harp, G. M.
    Perry-Moseanko, A.
    Seda, G.
    Matwiyoff, G.
    Han, T.
    SLEEP, 2017, 40 : A454 - A454
  • [33] NEONATAL X-LINKED MYOTUBULAR MYOPATHY IN A CANADIAN FAMILY
    SILVER, MM
    GILBERT, JJ
    SHAHEED, W
    STEWART, S
    LABORATORY INVESTIGATION, 1985, 52 (01) : A63 - A63
  • [34] X-LINKED MYOTUBULAR MYOPATHY WITH FATAL NEONATAL ASPHYXIA
    BARTH, PG
    VANWIJNGAARDEN, GK
    BETHLEM, J
    NEUROLOGY, 1975, 25 (06) : 531 - 536
  • [35] Underdiagnosis of X-linked myotubular myopathy and other forms of centronuclear myopathy
    Foye, Patrick M.
    NEUROMUSCULAR DISORDERS, 2007, 17 (03) : 266 - 266
  • [36] Characterization of MRI brain abnormalities in X-linked myotubular myopathy
    Vogt, L.
    Marefi, A.
    Amburgey, K.
    Addour, N.
    Widjaja, E.
    Poulin, C.
    Oskoui, M.
    McMillan, H.
    Chrestian, N.
    Saint-Martin, C.
    Srour, M.
    Dowling, J.
    NEUROMUSCULAR DISORDERS, 2022, 32 : S46 - S46
  • [37] Genotype-phenotype correlations in X-linked myotubular myopathy
    McEntagart, M
    Parsons, G
    Buj-Bello, A
    Biancalana, V
    Fenton, I
    Little, M
    Krawczak, M
    Thomas, N
    Herman, G
    Clarke, A
    Wallgren-Petterson, C
    NEUROMUSCULAR DISORDERS, 2002, 12 (10) : 939 - 946
  • [38] X-inactivation patterns in carriers of X-linked myotubular myopathy
    Kristiansen, M
    Knudsen, GP
    Tanner, SM
    McEntagart, M
    Jungbluth, H
    Muntoni, F
    Sewry, C
    Gallati, S
    Orstavik, KH
    Wallgren-Pettersson, C
    NEUROMUSCULAR DISORDERS, 2003, 13 (06) : 468 - 471
  • [39] X-Linked Myotubular Myopathy and Fragile X Syndrome in a Female Patient
    Paul, Dustin
    Iannaccone, Susan
    NEUROLOGY, 2019, 92 (15)
  • [40] Natural history of a mouse model of X-linked myotubular myopathy
    Sarikaya, Ege
    Sabha, Nesrin
    Volpatti, Jonathan
    Pannia, Emanuela
    Maani, Nika
    Gonorazky, Hernan D.
    Celik, Alper
    Liang, Yijng
    Onofre-Oliveira, Paula
    Dowling, James J.
    DISEASE MODELS & MECHANISMS, 2022, 15 (07)
12345