1994•Journal of the Neurological SciencesRequires access

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

Daniëlle de Vries, Ilse de Wijs, W. Ruitenbeek, Jacobus Begeer, Peter Smit, Herman Bentlage, Bernard van Oost

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Key concepts: Heteroplasmy, Mitochondrial DNA, Lactic acidosis, MELAS syndrome, Mitochondrial myopathy, Point mutation, Encephalopathy, Mutation

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Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation — Research Paper | ScholarLens