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
  • [1] VERY SEVERE SPINAL MUSCULAR ATROPHY (TYPE 0): A REPORT OF THREE CASES
    Barzegar, Mohammad
    Shoaran, Maryam
    Bonyadi, Mortaza
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2010, 4 (02) : 51 - 53
  • [2] Spinal muscular atrophy combined with sporadic olivopontocerebellar atrophy
    Luo, Wei
    Ouyang, Zhiyuan
    Guo, Yi
    Chen, Yuanshen
    Ding, Meiping
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2008, 110 (08) : 855 - 858
  • [3] Spinal muscular atrophy variant with congenital fractures
    Kelly, TE
    Amoroso, K
    Ferre, M
    Blanco, J
    Allinson, P
    Prior, TW
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 87 (01): : 65 - 68
  • [4] Clinical Characteristics of Cases with Spinal Muscular Atrophy
    Canpolat, Mehmet
    Bayram, Ayse Kacar
    Bahadir, Oguzhan
    Per, Huseyin
    Gumus, Hakan
    Dundar, Munis
    Kumandas, Sefer
    GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, 2016, 14 (01): : 18 - 22
  • [5] Intrathecal administration of nusinersen for spinal muscular atrophy: report of three cases with severe spinal deformity
    Sayo Nakao
    Shinichi Yamada
    Katsuya Tsuda
    Taishi Yokomizo
    Teruyuki Sato
    Shuichi Tanoue
    Teruyuki Hiraki
    JA Clinical Reports, 6
  • [6] Intrathecal administration of nusinersen for spinal muscular atrophy: report of three cases with severe spinal deformity
    Nakao, Sayo
    Yamada, Shinichi
    Tsuda, Katsuya
    Yokomizo, Taishi
    Sato, Teruyuki
    Tanoue, Shuichi
    Hiraki, Teruyuki
    JA CLINICAL REPORTS, 2020, 6 (01)
  • [7] Congenital contractural arachnodactyly with neurogenic muscular atrophy - Case report
    Scola, RH
    Werneck, LC
    Iwamoto, FM
    Ribas, LC
    Raskin, S
    Neto, YC
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2001, 59 (2A) : 259 - 262
  • [8] Spinal muscular atrophy with progressive myoclonic epilepsy:: Report of new cases and review of the literature
    Haliloglu, G
    Chattopadhyay, A
    Skorodis, L
    Manzur, A
    Mercuri, E
    Talim, B
    Akçören, Z
    Renda, Y
    Muntoni, F
    Topaloglu, H
    NEUROPEDIATRICS, 2002, 33 (06) : 314 - 319
  • [9] Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients
    Qu Yu-jin
    Song Fang
    Yang Yan-ling
    Jin Yu-wei
    Bai Jin-li
    CHINESE MEDICAL JOURNAL, 2011, 124 (03) : 385 - 389
  • [10] Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease
    Sangiuolo, Federica
    Botta, Annalisa
    Filareto, Antonio
    Spitalicri, Paola
    Novelli, Giuseppe
    CURRENT GENOMICS, 2006, 7 (06) : 381 - 386
12345