| Title |
Limb girdle muscular dystrophy 23 caused by compound 1 heterozygous mutations of LAMA2 gene |
| Description |
In the current investigation, compound heterozygous mutations of LAMA2 were identified in a Chinese girl diagnosed with LGMD23. The mutation was proved by reverse transcription PCR to affect splicing, which may result in frameshift and the premature of LAMA2. It contributes to put new insights into the genetic counseling, prenatal diagnosis and preimplantation genetic testing for the disease. |
| Organism |
Homo |
| Data Type |
Other Type of Genomic Data |
| Data Accessibility |
Controlled-access |
| BioProject |
PRJCA016035 |
| Release Date |
2026-01-01 |
| Submitter |
Minyue Dong (dongmy@zju.edu.cn) |
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission Date |
2023-04-04 |