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Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins
Limb‐girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the α‐sarcoglycan gene (SGCA). Due to lack of specificity, it is impossible to identify LGMD2D only by clinical symptoms and conventional immunohistochemical staining. The loss of any protein (α‐, β‐, γ‐, δ‐sarcoglycan) that repres...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons Australia, Ltd
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850699/ https://www.ncbi.nlm.nih.gov/pubmed/30989758 http://dx.doi.org/10.1111/neup.12549 |