Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene
- 8 July 2011
- journal article
- case report
- Published by Wiley in Muscle & Nerve
- Vol. 44 (5), 822-825
- https://doi.org/10.1002/mus.22226
Abstract
The use of hybridization‐based methods for Duchenne muscular dystrophy (DMD) mutation analysis is increasingly common. We report a case of Becker muscular dystrophy in which discrepant results between a polymerase chain reaction (PCR)‐based single‐condition amplification/internal primer (SCAIP) and a comparative genomic hybridization assay incompletely characterized the mutation (an inversion of exons 23 and 24). These results demonstrate the limits of sensitivity and specificity of both tests, and highlight the need for more detailed analysis when intronic deletions are detected by comparative genome hybridization methods. Muscle Nerve, 2011This publication has 48 references indexed in Scilit:
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