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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene
AIMS—To clarify the phenotype-genotype relation associated with the A3243G mitochondrial DNA mutation. METHODS—Five unrelated probands harbouring the A3243G mutation but presenting different clinical phenotype were analysed. Probands include Leigh syndrome (LS(3243)), mitochondrial myopathy, encepha...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Group
2000
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1718342/ https://ncbi.nlm.nih.gov/pubmed/10799437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.82.5.407 |
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