Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants
MARYAM HAGHSHENAS MOHAMMAD TAGHI AKBARI SHOHREH ZARE KARIZI FARAVAREH KHORDADPOOR DEILAMANI SHAHRIAR NAFISSI ZIVAR SALEHI
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Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked neuromuscular diseases characterized by progres-sive muscular weakness and degeneration of skeletal muscles. Approximately two-thirds of the patients have large deletionsor duplications in the dystrophin gene and the remaining one-third have point mutations. This study was performed to eval-uate point mutations in Iranian DMD/BMD male patients. A total of 29 DNA samples from patients who did not show anylarge deletion/duplication mutations following multiplex polymerase chain reaction (PCR) and multiplex ligation-dependentprobe amplification (MLPA) screening were sequenced for detection of point mutations in exons 50–79. Also exon 44 wassequenced in one sample in which a false positive deletion was detected by MLPA method. Cycle sequencing revealed fournonsense, one frameshift and two splice site mutations as well as two missense variants
MARYAM HAGHSHENAS1 MOHAMMAD TAGHI AKBARI2 3 SHOHREH ZARE KARIZI3 4 FARAVAREH KHORDADPOOR DEILAMANI3 5 SHAHRIAR NAFISSI6 ZIVAR SALEHI1
Volume 100, 2021
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