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Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review
The laminin α2 (LAMA2) gene pathogenic variants can lead to limb–girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs. We present the case of a 52-year-old woman who gradually developed weakness in both lower extremities since the...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968920/ https://www.ncbi.nlm.nih.gov/pubmed/36860576 http://dx.doi.org/10.3389/fneur.2023.1078151 |