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Dysferlin mutations and mitochondrial dysfunction
Dysferlinopathies are caused by mutations in the DYSF gene and patients may present with proximal or distal myopathy. Dysferlin is responsible for membrane resealing, and mutations may result in a defect in membrane repair following mechanical or chemical stress, causing an influx of Ca(2+). Since m...
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| Foilsithe in: | Neuromuscul Disord |
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| Main Authors: | , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Pergamon Press
2016
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5091283/ https://ncbi.nlm.nih.gov/pubmed/27666772 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2016.08.008 |
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