Spinal muscular atrophy combined with congenital heart disease: A report of two cases

被引：17
作者：
Mulleners, WM
vanRavenswaay, CMA
Gabreels, FJM
Hamel, BCJ
vanOort, A
Sengers, RCA
机构：
[1] UNIV NIJMEGEN ST RADBOUD HOSP,DEPT CHILD NEUROL,NL-6500 HB NIJMEGEN,NETHERLANDS
[2] UNIV NIJMEGEN ST RADBOUD HOSP,DEPT HUMAN GENET,NL-6500 HB NIJMEGEN,NETHERLANDS
[3] UNIV NIJMEGEN ST RADBOUD HOSP,DEPT PAEDIAT,NL-6500 HB NIJMEGEN,NETHERLANDS
来源：
NEUROPEDIATRICS | 1996年 / 27卷 / 06期
关键词：
spinal muscular atrophy; heart defect; survival motor neuron gene;
D O I：
10.1055/s-2007-973805
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：333 / 334
页数：2
相关论文
共 50 条
  • [31] Pyramidal signs in a Caucasian patient with spinal muscular atrophy: a case report
    Wan, Yu
    Zhang, Jun
    FOLIA NEUROPATHOLOGICA, 2016, 54 (04) : 418 - 421
  • [32] Inspiratory muscle training in severe spinal muscular atrophy: a case report
    Human, Anri
    Honey, Engela
    Morrow, Brenda
    INTERNATIONAL JOURNAL OF THERAPY AND REHABILITATION, 2019, 26 (04) : 1 - 19
  • [33] Spinal muscular atrophy associated with olivopontocerebellar hypoplasia. A case report
    Serra-Ortega, A
    Torres, A
    Segreo, M
    REVISTA DE NEUROLOGIA, 2005, 40 (02) : 90 - 92
  • [34] Anaesthetic management of spinal muscular atrophy in a patient with pneumothorax: a case report
    Rasheed, Madeeha
    Ahsan, Khalid
    JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION, 2025, 75 (04) : 652 - 654
  • [35] Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series
    Bregvadze, Kakha
    Abashishvili, Luka
    Tatishvili, Nana Nino
    Shatirishvili, Teona
    Bedoshvili, Ana
    Chikvinidze, Gocha
    Rolfs, Arndt
    Skrahina, Volha
    Tkemaladze, Tinatin
    FRONTIERS IN GENETICS, 2024, 15
  • [36] Skin necrosis in spinal muscular atrophy: Case report and review of the literature
    Weissman, Amanda S.
    Kennedy, Kelsey R.
    Powell, Matthew R.
    Davis, Loretta S.
    PEDIATRIC DERMATOLOGY, 2021, 38 (03) : 632 - 636
  • [37] A Patient with Tuberous Sclerosis Complex and Spinal Muscular Atrophy; A Case Report
    Raeisi, Sina
    Bakhtiary, Hassan
    Barzegar, Mohammad
    INTERNATIONAL JOURNAL OF PEDIATRICS-MASHHAD, 2020, 8 (08): : 11855 - 11860
  • [38] Spinal muscular atrophy carriers with two SMN1 copies
    Rochmah, Mawaddah Ar
    Awano, Hiroyuki
    Awaya, Tomonari
    Harahap, Nur Imma Fatimah
    Morisada, Naoya
    Bouike, Yoshihiro
    Saito, Toshio
    Kubo, Yuji
    Saito, Kayoko
    Lai, Poh San
    Morioka, Ichiro
    Iijima, Kazumoto
    Nishio, Hisahide
    Shinohara, Masakazu
    BRAIN & DEVELOPMENT, 2017, 39 (10) : 851 - 860
  • [39] Altered expression of ARPP protein in skeletal muscles of patients with muscular dystrophy, congenital myopathy and spinal muscular atrophy
    Nakada, C
    Tsukamoto, Y
    Oka, A
    Nonaka, I
    Sato, K
    Mori, S
    Ito, H
    Moriyama, M
    PATHOBIOLOGY, 2004, 71 (01) : 43 - 51
  • [40] Autosomal dominant congenital spinal muscular atrophy - A possible developmental deficiency of motor neurones?
    Reddel, S.
    Ouvrier, R. A.
    Nicholson, G.
    Dierick, I.
    Irobi, J.
    Timmerman, V.
    Ryan, M. M.
    NEUROMUSCULAR DISORDERS, 2008, 18 (07) : 530 - 535
12345