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Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby paraplegin mutations cause disease is unknown. We s...
Gorde:
| Egile Nagusiak: | , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Public Library of Science (PLoS)
2014-01-01
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| Saila: | PLoS ONE |
| Sarrera elektronikoa: | http://europepmc.org/articles/PMC3899233?pdf=render |
| Etiketak: |
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