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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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Bibliografiske detaljer
Main Authors: Koga, Y., Akita, Y., Takane, N., Sato, Y., Kato, H.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2000
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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