[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].
The c.4611+2T>A/c.12961del (p.Ser4321ALafs*21) compound heterozygous variants of the NEB gene probably underlay the pathogenesis in this child. Above findings has facilitated the diagnosis, genetic counseling, and guidance for reproductive decision of her family.
Authors
- Yuqing Lei (ORCID: https://orcid.org/0000-0003-4294-6577)
- Wenming Zheng (ORCID: https://orcid.org/0000-0002-7709-2164)
- Liwen Wang (ORCID: https://orcid.org/0000-0001-7135-3418)
- Xiaoyan Peng (ORCID: https://orcid.org/0000-0002-4275-6856)
- Xinrui Wang (ORCID: https://orcid.org/0009-0006-1733-3831)
- Qianqian Zhao (ORCID: https://orcid.org/0000-0003-2186-0395)
Institutions
- Fujian Women and Children Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-12-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240620-00343
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00