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: Koga, Y., Akita, Y., Takane, N., Sato, Y., Kato, H.
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2000
Teme:
Laboratory Research
Online dostop: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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