X-LINKED RECESSIVE MYOTUBULAR MYOPATHY

被引：0
|
作者：
PUESCHEL, SM
AMBLER, MM
NEAVE, C
TUTSCHKA, BG
ORSON, JM
SINGER, DB
机构：
[1] RHODE ISL HOSP,DEPT PEDIAT,PROVIDENCE,RI 02902
[2] RHODE ISL HOSP,DEPT PATHOL,PROVIDENCE,RI 02902
[3] BROWN UNIV,WOMEN & INFANTS HOSP,PROGRAM MED,PROVIDENCE,RI 02908
来源：
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 1985年 / 27卷 / 01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：95 / 95
页数：1
相关论文
共 50 条
  • [41] Underdiagnosis of X-linked myotubular myopathy and other forms of centronuclear myopathy
    Foye, Patrick M.
    NEUROMUSCULAR DISORDERS, 2007, 17 (03) : 266 - 266
  • [42] 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
  • [43] 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
  • [44] 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
  • [45] X-Linked Myotubular Myopathy and Fragile X Syndrome in a Female Patient
    Paul, Dustin
    Iannaccone, Susan
    NEUROLOGY, 2019, 92 (15)
  • [46] 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)
  • [47] X-linked myotubular myopathy:: anesthetic management for muscle biopsy
    Schmid, E
    Jöhr, M
    Berger, TM
    PEDIATRIC ANESTHESIA, 2006, 16 (02) : 218 - 220
  • [48] Gait characteristics in a canine model of X-linked myotubular myopathy
    Goddard, Melissa A.
    Burlingame, Emily
    Beggs, Alan H.
    Buj-Bello, Anna
    Childers, Martin K.
    Marsh, Anthony P.
    Kelly, Valerie E.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 346 (1-2) : 221 - 226
  • [49] MORPHOLOGICAL AND MORPHOMETRIC ANALYSIS OF MUSCLE IN X-LINKED MYOTUBULAR MYOPATHY
    SILVER, MM
    GILBERT, JJ
    STEWART, S
    BRABYN, D
    JUNG, J
    HUMAN PATHOLOGY, 1986, 17 (11) : 1167 - 1178
  • [50] Mutation-specific therapy for X-linked myotubular myopathy
    Hayashi, S.
    Noguchi, S.
    Kumutpongpanich, T.
    Iida, A.
    Okubo, M.
    Matsuo, M.
    Nishino, I.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S79 - S79
12345