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Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

Anja T. Rovio, Valeria Tiranti, Amy L. Bednarz, Anu Suomalainen, Johannes N. Spelbrink, Nicolas Lecrenier, Atle Melberg, Massimo Zeviani, Joanna Poulton, Françoise Foury,

European Journal of Human Genetics · 1999 · 35 citations · 26 references

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26

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Yu‐ichi Goto, Ikuya Nonaka, Satoshi Horai · Nature · 1990 · 2.1K citations

, , +11

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

Ian Holt, A. E. Harding, J A Morgan-Hughes · Nature · 1988 · 1.8K citations

, , +14

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

John M. Shoffner, Marie T. Lott, Angela Maria Serena Lezza et al. · Cell · 1990 · 1.5K citations

, , +16

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

Toni R. Prezant, John Agapian, Marlene C. Bohlman et al. · Nature Genetics · 1993 · 1.2K citations

, , +16

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Ian Holt, A. E. Harding, Richard Petty et al. · PubMed · 1990 · 1K citations

, , +14