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Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA
Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old man who presented to The Children's Hospital...
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| Vydáno v: | Front Genet |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Frontiers Media S.A.
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4456612/ https://ncbi.nlm.nih.gov/pubmed/26097489 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00199 |
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