LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study
<i>LAMA2</i>-MD exhibits a broad phenotypic spectrum and a progressive disease course. Early manifestations include muscle weakness, delayed achievement of developmental milestones, joint contractures, seizures and characteristic intracranial abnormalities.
Authors
- Huaping Wu
- Yong Chen (ORCID: https://orcid.org/0000-0001-7534-1780)
- Jianmin Zhong
- Jian Zha (ORCID: https://orcid.org/0000-0002-6967-3698)
- Xiongying Yu
- Ying Yu
- Fangfang Cao
- Zhaoshi Yi
Institutions
- Jiangxi Provincial Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2026-01-06
- DOI
- https://doi.org/10.3389/fneur.2025.1728652
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00