Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological findings and is confirmed by genetic analysis. The...

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Detalles Bibliográficos
Autores principales: Bachmann, Christoph, Franchini, Martina, Van den Bersselaar, Luuk R, Kruijt, Nick, Voermans, Nicol C, Bouman, Karlijn, Kamsteeg, Erik-Jan, Knop, Karl Christian, Ruggiero, Lucia, Santoro, Lucio, Nevo, Yoram, Wilmshurst, Jo, Vissing, John, Sinnreich, Michael, Zorzato, Daniele, Muntoni, Francesco, Jungbluth, Heinz, Zorzato, Francesco, Treves, Susan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9525005/
https://www.ncbi.nlm.nih.gov/pubmed/36196089
http://dx.doi.org/10.1093/braincomms/fcac224

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