A carregar...
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...
Na minha lista:
| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2015
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|