## 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
Novel 3678delA mutation in exon 26 of the dystrophin gene causing duchenne muscular dystrophy
β Scribed by Alka Agarwal-Mawal; Michel Vanasse; Louise R. Simard
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 232 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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Out of three mutations in the dystrophin gene that cause Duchenne muscular dystrophy (DMD), the most common, serious childhood muscle wasting disease, two are genomic deletions of one or more exons that disrupt the reading frame. Specific removal of an exon flanking a genomic deletion using antisens
A boy with the clinical phenotype of Duchenne muscular dystrophy had no detectable deletion or duplication in the dystrophin gene by the routine multiplex PCR method. In mRNA extracted from his muscle biopsy, newly recognized extra-exons of 172 bp and 202 bp were present between exon 25 and 26 sugge