AI Article Synopsis
- Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked conditions that cause progressive muscle weakness and degeneration, primarily due to mutations in the dystrophin gene.
- A study investigated point mutations in 29 Iranian male patients with DMD/BMD who did not have large gene deletions or duplications as identified by specific genetic screening methods.
- The sequencing of specific exons led to the discovery of various mutations, including four nonsense, one frameshift, two splice site mutations, and two missense variants.
Article Abstract
Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked neuromuscular diseases characterized by progressive muscular weakness and degeneration of skeletal muscles. Approximately two-thirds of the patients have large deletions or duplications in the dystrophin gene and the remaining one-third have point mutations. This study was performed to evaluate point mutations in Iranian DMD/BMD male patients. A total of 29 DNA samples from patients who did not show any large deletion/duplication mutations following multiplex polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) screening were sequenced for detection of point mutations in exons 50-79. Also exon 44 was sequenced in one sample in which a false positive deletion was detected by MLPA method. Cycle sequencing revealed four nonsense, one frameshift and two splice site mutations as well as two missense variants.
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| http://dx.doi.org/10.1007/s12041-016-0641-2 | DOI Listing |
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