Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

Congenital myopathies are early onset, slowly progressive neuromuscular disorders of variable severity. They are genetically and phenotypically heterogeneous and caused by pathogenic variants in several genes. Multi-minicore Disease, one of the more common congenital myopathies, is frequently caused...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Bachmann, Christoph, Noreen, Faiza, Voermans, Nicol C., Schär, Primo L., Vissing, John, Fock, Johanna M., Bulk, Saskia, Kusters, Benno, Moore, Steven A., Beggs, Alan H., Mathews, Katherine D., Meyer, Megan, Genetti, Casie A., Meola, Giovanni, Cardani, Rosanna, Mathews, Emma, Jungbluth, Heinz, Muntoni, Francesco, Zorzato, Francesco, Treves, Susan
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6660981/
https://ncbi.nlm.nih.gov/pubmed/30932294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23745
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