<i>CRPPA</i> exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
This study broadens the <i>CRPPA</i> mutational spectrum and identifies a founder mutation of exon 6-9 deletion in Chinese patients. These findings have important implications for population-specific screening, diagnosis, and genetic counseling.
Authors
- Yanbin Fan (ORCID: https://orcid.org/0000-0002-5960-7961)
- Hui Xiong (ORCID: https://orcid.org/0000-0003-4138-2992)
- Tatsushi Toda (ORCID: https://orcid.org/0000-0002-0717-1123)
- Qiang Shen (ORCID: https://orcid.org/0000-0001-9333-4605)
- Huaxia Luo (ORCID: https://orcid.org/0000-0001-9944-0345)
- Danyu Song
- Jihang Luo (ORCID: https://orcid.org/0000-0001-5351-2622)
- Motoi Kanagawa (ORCID: https://orcid.org/0000-0003-0984-6398)
- X T Fu (ORCID: https://orcid.org/0000-0003-1513-3386)
- Yuxuan Guo (ORCID: https://orcid.org/0000-0002-6009-4403)
- Hong Zhang (ORCID: https://orcid.org/0000-0001-9855-4068)
- Jin Xu
- Shiqi Yang
- Cuijie Wei (ORCID: https://orcid.org/0009-0002-1609-5158)
- Jingmin Wang (ORCID: https://orcid.org/0000-0001-8994-0389)
- Yanwei He (ORCID: https://orcid.org/0000-0001-7544-6160)
- Yidan Liu (ORCID: https://orcid.org/0000-0002-8112-6662)
- Liyuan Cui (ORCID: https://orcid.org/0009-0006-5577-2085)
- Lin Ge (ORCID: https://orcid.org/0000-0002-6547-3242)
Institutions
- Capital Medical University (CN)
- Peking University (CN)
- Peking University First Hospital (CN)
- Beijing Children’s Hospital (CN)
- Ehime University (JP)
- The University of Tokyo (JP)
Publication Details
- Journal
- Pediatric Investigation
- Published
- 2025-11-30
- DOI
- https://doi.org/10.1002/ped4.70029
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00