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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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Publicado en:Neuromuscul Disord
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: Artigo
Lenguaje:Inglês
Publicado: Pergamon Press 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5066370/
https://ncbi.nlm.nih.gov/pubmed/27618136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2016.08.004
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