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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...
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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Public Library of Science
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3899233/ https://ncbi.nlm.nih.gov/pubmed/24466038 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0086340 |
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