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Translational Research and Therapeutic Perspectives in Dysferlinopathies
Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) an...
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| Huvudupphovsmän: | , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
ScholarOne
2011
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3188867/ https://ncbi.nlm.nih.gov/pubmed/21556485 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2011.00084 |
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