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Mitochondrial dysfunction in myofibrillar myopathy

Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as yet unidentified genes. Previous studies have...

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Detalles Bibliográficos
Autores principales: Vincent, Amy E., Grady, John P., Rocha, Mariana C., Alston, Charlotte L., Rygiel, Karolina A., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066370/
https://www.ncbi.nlm.nih.gov/pubmed/27618136
http://dx.doi.org/10.1016/j.nmd.2016.08.004