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] SPINAL MUSCULAR ATROPHY: TWO CASES OF RAPIDLY PROGRESSIVE DISEASE
    Extreia, J.
    Monteiro, I.
    Ferreira, A. R.
    Rocha, S.
    Didelet, C.
    Goncalves, E.
    PEDIATRIC RESEARCH, 2010, 68 : 344 - 344
  • [2] Congenital heart disease is a feature of severe infantile spinal muscular atrophy
    Rudnik-Schoeneborn, S.
    Heller, R.
    Berg, C.
    Betzler, C.
    Grimm, T.
    Eggermann, T.
    Eggermann, K.
    Wirth, R.
    Wirth, B.
    Zerres, K.
    JOURNAL OF MEDICAL GENETICS, 2008, 45 (10) : 635 - 638
  • [3] 675 Spinal Muscular Atrophy: Two Cases of Rapidly Progressive Disease
    J Extreia
    I Monteiro
    A R Ferreira
    S Rocha
    C Didelet
    E Gonçalves
    Pediatric Research, 2010, 68 : 344 - 344
  • [4] Congenital Segmental Spinal Muscular Atrophy: A Case Report
    Savas, Tulin
    Erol, Ilknur
    Ozkale, Yasemin
    Saygi, Semra
    JOURNAL OF CHILD NEUROLOGY, 2015, 30 (04) : 509 - 512
  • [5] Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
    Menke, Leonie A.
    Poll-The, Bwee Tien
    Clur, Sally-Ann
    Bilardo, Catia M.
    van der Wal, Allard C.
    Lenunink, Henny H.
    Cobben, Jan Maarten
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (06) : 740 - 744
  • [6] ADULT SPINAL MUSCULAR-ATROPHY - A REPORT OF 4 CASES
    HUANG, KW
    LUO, Y
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 61 (02) : 249 - 259
  • [7] Bacterial endocarditis and congenital heart disease (with report of two cases)
    Antenucci, AJ
    Eckhardt, GF
    ANNALS OF INTERNAL MEDICINE, 1942, 17 (03) : 511 - 518
  • [8] 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
  • [9] CONGENITAL SEGMENTAL SPINAL MUSCULAR-ATROPHY
    SARNAT, H
    DARWISH, H
    ARCHER, C
    BROWNELL, K
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1979, 6 (03) : 379 - 379
  • [10] 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
12345