Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China

•The NBS cut-off value for DMD screening was established by detecting CK-MM level in DBS based on a large cohort of Henan population.•The estimated incidence of male neonatal duchenne muscular dystrophy (DMD) was 1/4,370 in Henan province, China.•The experience from this study provided a model that...

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Bibliographic Details
Published in:Clinica chimica acta 2023-01, Vol.539, p.90-96
Main Authors: Jia, Chenlu, Zhao, Dehua, Li, Yanru, Gao, Yanbo, Zhang, Xiaoli, Li, Xiaole, Lv, Shubo, Li, Runqing, Zhu, Xinyun, Liu, Suna
Format: Article
Language:English
Subjects:
China
Creatine kinase MM
Cut-off value
Duchenne muscular dystrophy
Dystrophin - genetics
Gene Deletion
Genomics
Humans
Infant, Newborn
Male
Muscular Dystrophy, Duchenne - diagnosis
Muscular Dystrophy, Duchenne - genetics
Mutation
Neonatal Screening
Newborn screening
Variants
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