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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
BACKGROUND: Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a deficiency i...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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BMJ Group
2009
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2921275/ https://ncbi.nlm.nih.gov/pubmed/19542079 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.067553 |
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