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Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule development and maintenance, Ca(2+) signalling, and the regu...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531777/ https://www.ncbi.nlm.nih.gov/pubmed/37762951 http://dx.doi.org/10.3390/jcm12186011 |