Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.

Zhiying XieYunlong LuChang LiuChengyue SunJiaxi YuChen LingXinghua LuanWei WangLi WangYanhong LiangQianbo LuoLingchao MengZhaoxia WangYun Yuan

Published in: Journal of clinical laboratory analysis (2023)

Our case report expands the genetic spectrum of BMD and highlights the essential role of deep-intronic cryptic exon-activating variants in genetically unsolved BMD patients.

Keyphrases

muscular dystrophy
case report
end stage renal disease
newly diagnosed
duchenne muscular dystrophy
chronic kidney disease
copy number
prognostic factors
peritoneal dialysis
signaling pathway
patient reported