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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: 2019
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Article
Online dostop: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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