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Evaluation of Point Mutations in Dystrophin Gene in Iranian Duchenne and Becker Muscular Dystrophy Patients: Introducing Three Novel Variants Publisher Pubmed



Haghshenas M1 ; Akbari MT2, 3 ; Karizi SZ3, 4 ; Deilamani FK3, 5 ; Nafissi S6 ; Salehi Z1
Authors

Source: Journal of Genetics Published:2016


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. © 2016, Indian Academy of Sciences.
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