A novel point mutation affecting asn76 of dystrophin protein leads to dystrophinopathy

By Katalin Koczok, Gabriella Merő, Gabriella P. Szabó, László Madar, Éva Gombos, Éva Ajzner, János András Mótyán, Tibor Hortobágyi, István Balogh On Dec 9, 2017

• Missense mutations are rare cause of Duchenne/Becker muscular dystrophy.• Confirmatory testing of single-exon deletions detected by MLPA is important.• We describe a novel missense mutation in the DMD gene.• To predict the severity is challenging at young age in case of a new mutation.