Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency

Neurology

Volumn 66, Issue 2, 2006, Pages 285-286

  Schroers, A ^a,b   Kley, R A ^a   Stachon, A ^a,b   Horvath, R ^c   Lochmuller H ^d,f   Zange, J ^e   Vorgerd, M ^a,b,f  

^a Department of Neurology   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c Klinikum Schwabing   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e GERMAN AEROSPACE CENTER DLR   (Germany)

^f German Network on Muscular Dystrophies (MD NET)   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENTAMICIN; GLYCOGEN PHOSPHORYLASE; PHOSPHORYLASE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; DRUG EFFICACY; DRUG TREATMENT FAILURE; EXERCISE TOLERANCE; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCLE BIOPSY; NEPHROTOXICITY; OTOTOXICITY; PRIORITY JOURNAL; SYMPTOMATOLOGY; TREATMENT OUTCOME; CELL CULTURE; DRUG EFFECT; ENERGY METABOLISM; ENZYMOLOGY; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; MYOBLAST; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OSMOLARITY; SKELETAL MUSCLE;

ADOLESCENT; ADULT; CELLS, CULTURED; ENERGY METABOLISM; FEMALE; GENTAMICINS; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOBLASTS; OSMOLAR CONCENTRATION; PHOSPHORYLASES;

EID: 33644889412     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000194212.31318.fc     Document Type: Article

References (6)

1. Wilschanski M, Yahav Y, Yaacov Y, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003;349:1433-1441.
2. Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999;104:375-381.
3. Dunant P, Walter MC, Karpati G, Lochmuller H. Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003;27:624-627.
4. Wagner KR, Hamed S, Hadley DW, et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 2001;49:706-711.
5. 31P-MRS and EMG study. Muscle Nerve 2003;27:728-736.
6. Manuvakhova M, Keeling K, Bedwell DM. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 2000;6:1044-1055.