Ontology highlight
ABSTRACT:
SUBMITTER: Niu HH
PROVIDER: S-EPMC7390220 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Niu Huan-Hong HH Tao Dong-Ying DY Cheng Sheng-Quan SQ
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20200601 6
<h4>Objective</h4>To study the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy (BMD)/Duchenne muscular dystrophy (DMD) so as to provide a theoretical basis for disease management, gene therapy, and prenatal diagnosis.<h4>Methods</h4>A retrospective analysis was performed for the clinical data and gene detection results of 52 children with BMD/DMD. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the DMD gene. The children ...[more]