Article
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis.
Clinica chimica acta; international journal of clinical chemistry - 25 Aug 2015
Roucher Boulez Florence, Menassa Rita, Streichenberger Nathalie, Manel Véronique, Mallet-Motak Delphine, Morel Yves, Michel-Calemard Laurence
Abstract excerpt
BACKGROUND: Dystrophinopathies, either the severe Duchenne Muscular Dystrophy (DMD) or the milder Becker Muscular Dystrophy (BMD), are X-linked recessive disorders caused by mutations in the DMD gene. DMD is one of the longest human genes. Large deletions or duplications account for 60-80% of the mutations. Remaining anomalies consist in point mutations or small rearrangements. Routinely, the molecular diagnosis...
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