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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Bibliographic Details
Main Authors: Maddison, Paul, Damian, Maxwell S., Sewry, Caroline, McGorrian, Catherine, Winer, John B., Odgerel, Zagaa, Shatunov, Alexey, Lee, Hee Suk., Goldfarb, Lev G.
Format: Artigo
Language:Inglês
Published: 2012
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Article
Online Access: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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