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Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain
BACKGROUND: Most of the previously described pathogenic mutations in desmin are located in highly conserved α-helical domains that play an important role in intermediate filament assembly. The role of the C-terminus non-α-helical “tail” domain is much less investigated and until recently mutations i...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3551980/ https://ncbi.nlm.nih.gov/pubmed/23051780 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000341617 |
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