First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

• Main Authors: Zhiying Xie (Author), Chengyue Sun (Author), Chang Liu (Author), Xujun Chu (Author), Qiang Gang (Author), Meng Yu (Author), Yiming Zheng (Author), Lingchao Meng (Author), Fan Li (Author), Dongliang Xia (Author), Li Wang (Author), Ying Li (Author), Jianwen Deng (Author), He Lv (Author), Zhaoxia Wang (Author), Wei Zhang (Author), Yun Yuan (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundThe precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the genetic diagnosis of three patients from...