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A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
Bethlem myopathy (BM) is a disease that is caused by mutations in the collagen VI genes. It is a mildly progressive disease characterized by proximal muscle weakness and contracture of the fingers, the wrist, the elbow, and the ankle. BM is an autosomal dominant inheritance that is mainly caused by...
| 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/PMC9911450/ https://www.ncbi.nlm.nih.gov/pubmed/36779064 http://dx.doi.org/10.3389/fneur.2023.1063090 |