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Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

✍ Scribed by Kathryn R. Wagner; Sherifa Hamed; Donald W. Hadley; Andrea L. Gropman; Aaron H. Burstein; Diana M. Escolar; Eric P. Hoffman; Kenneth H. Fischbeck


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
416 KB
Volume
49
Category
Article
ISSN
0364-5134

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## Communicated by Ulf Landegren Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with B60% carrying deletions and 5-10% carrying duplications. Most of the remaining

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For the first time in Bulgaria, a deletion/ duplication screening was performed on a group of 84 unrelated Duchennemecker muscular dystrophy patients, and the breakpoint distribution in the dystrophin gene was analyzed. Intragenic deletions were detected in 67.8% of patients, and intragenic duplicat

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## Abstract A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for