Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients

被引：0
作者：
Janusz G. Zimowski
Joanna Purzycka
Magdalena Pawelec
Katarzyna Ozdarska
Jacek Zaremba
机构：
[1] Institute of Psychiatry and Neurology,Department of Genetics
来源：
Journal of Applied Genetics | 2021年 / 62卷
关键词：
BMD; DMD; Small mutations; Point mutations; Novel mutations; Carriers;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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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页码：289 / 295
页数：6
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