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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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Bibliografiske detaljer
Udgivet i:Neuromuscul Disord
Main Authors: 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
Sprog:Inglês
Udgivet: Pergamon Press 2016
Fag:
Online adgang: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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