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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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| Main Authors: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Group
2000
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| Fag: | |
| Online adgang: | 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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