Abstract
Introduction: The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995. Methods: All requests for DNA analysis of the DMD gene in probands with suspected BMD were re-evaluated. If the phenotype was compatible with BMD, and no deletions or duplications were detected, DNA samples were screened for small mutations. Results: In 79 of 185 referrals, no mutation was found. Analysis could be performed on 31 DNA samples. Seven different mutations, including 3 novel ones, were found. Long-term clinical follow-up is described. Conclusions: Refining DNA analysis in previously undiagnosed cases can identify mutations in the DMD gene and provide genetic diagnosis of BMD. A delayed diagnosis can still be valuable for the proband or the relatives of BMD patients.
Original language | English |
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Pages (from-to) | 44-48 |
Number of pages | 5 |
Journal | Muscle & Nerve |
Volume | 53 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1 Jan 2015 |
Keywords
- Becker muscular dystrophy
- Diagnosis
- DNA
- Dystrophinopathy
- Muscle disease