Abstract
In the 164 patients with Duchenne/Becker muscular dystrophy, we found 142 different small mutations including 51 novel mutations not listed in the LOVD, the UMD-DMD, the ClinVar, and the HGMD databases. Among all mutations, nonsense mutations occurred in 45.7%, frameshift mutations in 32.9%, and splicing mutations in 19.5%. Small mutations were distributed throughout the whole dystrophin gene. Splicing mutations were twice more common in BMD patients than in DMD patients. Eighty-two percent of mothers of the males affected with DMD/BMD were found to be carriers of small mutations.
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All funding was received from the Institute of Psychiatry and Neurology.
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J.G. Zimowski: conceptualization, planning, data analysis, manuscript preparation; J. Purzycka: conduct of experiments, data analysis; M. Pawelec: conduct of experiments, data analysis; K. Ozdarska: conduct of experiments, data analysis; J. Zaremba: conceptualization, design analysis, data analysis, manuscript preparation.
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Communicated by: Michal Witt
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Zimowski, J.G., Purzycka, J., Pawelec, M. et al. Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients. J Appl Genetics 62, 289–295 (2021). https://doi.org/10.1007/s13353-020-00605-0
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DOI: https://doi.org/10.1007/s13353-020-00605-0