期刊
MUSCLE & NERVE
卷 44, 期 5, 页码 822-825出版社
WILEY-BLACKWELL
DOI: 10.1002/mus.22226
关键词
Becker muscular dystrophy; CGH; inversion mutation; MLPA; SCAIP
资金
- NIH [R01 NS043264]
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 44: 822-825, 2011
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