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Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle
Plectin, a versatile 500-kDa cytolinker protein, is essential for muscle fiber integrity and function. The most common disease caused by mutations in the human plectin gene, epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), is characterized by severe skin blistering and progressive mus...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512624/ https://www.ncbi.nlm.nih.gov/pubmed/26019234 http://dx.doi.org/10.1093/hmg/ddv184 |