Gentamicin treatment in McArdle disease:: Failure to correct myophosphorylase deficiency

被引:30
作者
Schroers, A
Kley, RA
Stachon, A
Horvath, R
Lochmüller, H
Zange, J
Vorgerd, M
机构
[1] Ruhr Univ Bochum, Dept Neurol, Kliniken Bergmannsheil, Neuromuscular Ctr Ruhrgebiet, D-44789 Bochum, Germany
[2] Ruhr Univ Bochum, Inst Clin Chem, Kliniken Bergmannsheil, D-44789 Bochum, Germany
[3] Acad Hosp Schwabing, Metab Dis Res Munich Schwabing, Inst Clin Chem, Munich, Germany
[4] Acad Hosp Schwabing, Metab Dis Res Munich Schwabing, Inst Mol Diagnost, Munich, Germany
[5] Acad Hosp Schwabing, Metab Dis Res Munich Schwabing, Inst Mitochondrial Genet, Munich, Germany
[6] Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany
[7] Inst Aerosp Med, Aerosp Ctr, Cologne, Germany
关键词
D O I
10.1212/01.wnl.0000194212.31318.fc
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:285 / 286
页数:2
相关论文
共 6 条
[1]   Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice [J].
Barton-Davis, ER ;
Cordier, L ;
Shoturma, DI ;
Leland, SE ;
Sweeney, HL .
JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (04) :375-381
[2]   Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle [J].
Dunant, P ;
Walter, MC ;
Karpati, G ;
Lochmüller, H .
MUSCLE & NERVE, 2003, 27 (05) :624-627
[3]   Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system [J].
Manuvakhova, M ;
Keeling, K ;
Bedwell, DM .
RNA, 2000, 6 (07) :1044-1055
[4]   Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations [J].
Wagner, KR ;
Hamed, S ;
Hadley, DW ;
Gropman, AL ;
Burstein, AH ;
Escolar, DM ;
Hoffman, EP ;
Fischbeck, KH .
ANNALS OF NEUROLOGY, 2001, 49 (06) :706-711
[5]   Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations [J].
Wilschanski, M ;
Yahav, Y ;
Yaacov, Y ;
Blau, H ;
Bentur, L ;
Rivlin, J ;
Aviram, M ;
Bdolah-Abram, T ;
Bebok, Z ;
Shushi, L ;
Kerem, B ;
Kerem, E .
NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (15) :1433-1441
[6]   Breakdown of adenine nucleotide pool in fatiguing skeletal muscle in McArdle's disease:: A noninvasive 31P-MRS and EMG study [J].
Zange, J ;
Grehl, T ;
Disselhorst-Klug, C ;
Rau, G ;
Müller, K ;
Schröder, R ;
Tegenthoff, M ;
Malin, JP ;
Vorgerd, M .
MUSCLE & NERVE, 2003, 27 (06) :728-736