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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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| Publicado no: | Neuromuscul Disord |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pergamon Press
2016
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| Assuntos: | |
| Acesso em linha: | 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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