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
Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene
✍ Scribed by Kevin M. Flanigan; Diane Dunn; C. Aaron Larsen; Livija Medne; Carsten B. Bönnemann; Robert B. Weiss
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 350 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-639X
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## Communicated by Haig H. Kazazian Approximately two-thirds of Duchenne muscular dystrophy (DMD) patients show intragenic deletions ranging from one to several exons of the DMD gene and leading to a premature stop codon. Other deletions that maintain the translational reading frame of the gene re
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
Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes conf