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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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Front Genet
Main Authors: McCormick, Elizabeth M., Kenyon, Lawrence, Falk, Marni J.
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2015
נושאים:
גישה מקוונת: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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