AI Article Synopsis
- Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene, with DMD showing little to no dystrophin and BMD having some functional dystrophin.
- Approximately 65% of mutations in these conditions involve deletions in the dystrophin gene.
- Diagnosis often relies on immunohistochemical staining to assess dystrophin levels and genetic analysis to confirm specific mutations, as the staining results can be inconclusive for BMD.
Article Abstract
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683945 | PMC |
| http://dx.doi.org/10.1155/2009/325210 | DOI Listing |
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