Učitavanje...
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy
OBJECTIVE: We report novel defects of mitochondrial translation elongation factor Ts (EFTs), with high carrier frequency in Finland and expand the manifestations of this disease group from infantile cardiomyopathy to juvenile neuropathy/encephalopathy disorders. METHODS: DNA analysis, whole-exome an...
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| Glavni autori: | , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Lippincott Williams & Wilkins
2014
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4150129/ https://ncbi.nlm.nih.gov/pubmed/25037205 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000716 |
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