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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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Détails bibliographiques
Publié dans:Neuromuscul Disord
Auteurs principaux: Vincent, Amy E., Grady, John P., Rocha, Mariana C., Alston, Charlotte L., Rygiel, Karolina A., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Format: Artigo
Langue:Inglês
Publié: Pergamon Press 2016
Sujets:
Accès en ligne: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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