title: Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.
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.
authors: Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA.
authors: Kevin M
authors: KM
authors: Flanigan
authors: Diane
authors: D
authors: Dunn
authors: C Aaron
authors: CA
authors: Larsen
authors: Livija
authors: L
authors: Medne
authors: Carsten B
authors: CB
authors: Bönnemann
authors: Robert B
authors: RB
authors: Weiss
mesh_terms: D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D057345:Sequence Inversion / Q000235:genetics*
chemical_list: C484258:DMD protein, human; D016189:Dystrophin