DISSOCIATED EXCITATION-CONTRACTION COUPLING IN INFANTILE POMPE DISEASE

被引:0
作者
Gutmann, Ludwig [1 ]
Jaynes, Margaret [2 ]
Gyure, Kymberly [3 ]
Nance, Christopher [1 ]
Gutmann, Laurie [1 ]
机构
[1] Univ Iowa, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52232 USA
[2] West Virginia Univ, Dept Neurol, Morgantown, WV 26506 USA
[3] West Virginia Univ, Dept Pathol, Morgantown, WV 26506 USA
关键词
alpha glucosidase; excitation-contraction coupling; glycogen storage disease; infantile Pompe disease; lysosomal disorder; muscle contraction;
D O I
10.1002/mus.25584
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:E4 / E6
页数:7
相关论文
共 4 条
  • [1] SPECTRUM AND DIAGNOSIS OF ACID MALTASE DEFICIENCY
    ENGEL, AG
    GOMEZ, MR
    SEYBOLD, ME
    LAMBER, EH
    [J]. NEUROLOGY, 1973, 23 (01) : 95 - 106
  • [2] Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
    Finkel, Richard S.
    Chiriboga, Claudia A.
    Vajsar, Jiri
    Day, John W.
    Montes, Jacqueline
    De Vivo, Darryl C.
    Yamashita, Mason
    Rigo, Frank
    Hung, Gene
    Schneider, Eugene
    Norris, Daniel A.
    Xia, Shuting
    Bennett, C. Frank
    Bishop, Kathie M.
    [J]. LANCET, 2016, 388 (10063) : 3017 - 3026
  • [3] POMPES DISEASE
    HOGAN, GR
    GUTMANN, L
    SCHMIDT, R
    GILBERT, E
    [J]. NEUROLOGY, 1969, 19 (09) : 894 - +
  • [4] Katzin Lara W, 2008, J Clin Neuromuscul Dis, V9, P421, DOI 10.1097/CND.0b013e318176dbe4