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
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
  • [21] Spinal Muscular Atrophy A (Now) Treatable Neurodegenerative Disease
    Fay, Alex
    PEDIATRIC CLINICS OF NORTH AMERICA, 2023, 70 (05) : 963 - 977
  • [22] Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
    Xia, Yu
    Feng, Yijie
    Xu, Lu
    Chen, Xiaoyang
    Gao, Feng
    Mao, Shanshan
    FRONTIERS IN GENETICS, 2021, 12
  • [23] Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report
    Ma, Kai
    Wang, Dong
    Hu, Wandong
    Wang, Jie
    Yu, Chunmei
    Cui, Zhenqiong
    Liu, Fangfang
    MEDICINE, 2024, 103 (31) : e39076
  • [24] CONGENITAL CAUDAL SPINAL ATROPHY - A CASE-REPORT
    TSUKAMOTO, H
    INAGAKI, M
    TOMITA, Y
    OHNO, K
    NEUROPEDIATRICS, 1992, 23 (05) : 260 - 262
  • [25] The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy
    Mansouri, Vahid
    Heidari, Morteza
    Bemanalizadeh, Maryam
    Azizimalamiri, Reza
    Nafissi, Shahriar
    Akbari, Masood Ghahvechi
    Barzegar, Mohammad
    Moayedi, Ali Reza
    Badv, Reza Shervin
    Mohamadi, Mahmood
    Tavasoli, Ali Reza
    Amirsalari, Susan
    Khajeh, Ali
    Inaloo, Soroor
    Fatehi, Farzad
    Hosseinpour, Sareh
    Babaei, Meisam
    Hosseini, Seyed Ahmad
    Hosseiny, Seyyed Mohammad Mahdi
    Fayyazi, Afshin
    Hosseini, Firoozeh
    Toosi, Mehran Beiraghi
    Khosroshahi, Nahid
    Ghabeli, Homa
    Biglari, Habibeh Nejad
    Kakhki, Simin Khayatzadeh
    Mirlohi, Seyed Hossein
    Bidabadi, Elham
    Mohammadi, Bahram
    Omrani, Abdolmajid
    Sedighi, Mostafa
    Vafaee-Shahi, Mohammad
    Rasulinezhad, Maryam
    Hoseini, Seyyed Mohamad
    Movahedinia, Mojtaba
    Rezaei, Zahra
    Karimi, Parviz
    Farshadmoghadam, Hossein
    Anvari, Saeed
    Yaghini, Omid
    Nasiri, Jafar
    Zamani, Gholamreza
    Ashrafi, Mahmoud Reza
    JOURNAL OF NEUROMUSCULAR DISEASES, 2023, 10 (02) : 211 - 225
  • [26] Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature
    Sah, Jeetendra P.
    Abrams, Aaron W.
    Chari, Geetha
    Linden, Craig
    Anziska, Yaacov
    JOURNAL OF PEDIATRIC NEUROLOGY, 2021, 19 (05) : 352 - 354
  • [27] Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report
    Hashimoto, Kazuhiko
    Yokokawa, Mari
    Yamashita, Daisuke
    Yuge, Kotaro
    Otsubo, Yoshikazu
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (07)
  • [28] Spinal Muscular Atrophy: More than a Disease of Motor Neurons?
    Nash, L. A.
    Burns, J. K.
    Chardon, J. Warman
    Kothary, R.
    Parks, R. J.
    CURRENT MOLECULAR MEDICINE, 2016, 16 (09) : 779 - 792
  • [29] Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review
    Chi, Yuewei
    Qiao, Yue
    Ma, Ying
    NEUROLOGICAL SCIENCES, 2024, : 5605 - 5615
  • [30] 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