References
Ciafaloni E, Ricci E, Shanske S et al (1992) MELAS: clinical features, biochemistry and molecular genetics.Ann Neurol 31: 391–398.
Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup in mitochondrial encephalomyopathies.Nature 348: 651–653.
Holt IJ, Harding AE, Cooper JM et al (1989) Mitochondrial myopathies: clinical and biochemical features in 30 cases with major deletions of muscle mitochondrial DNA.Ann Neurol 26: 699–708.
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Campos, Y., Bautista, J., Gutierrez-Rivas, E. et al. Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA. J Inherit Metab Dis 17, 634–635 (1994). https://doi.org/10.1007/BF00711608
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DOI: https://doi.org/10.1007/BF00711608