Concepedia

Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes

Yasutoshi Koga, Atsuko Koga, Rikako Iwanaga, Yukihiro Akita, Junko Tubone, Toyojiro Matsuishi, Naoko Takane, Yoshihiro Satō, Hirohisa Kato

Acta Neuropathologica · 2000 · 22 citations · 10 references

DOI

Concepts

References

10

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

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

J. M. W. van den Ouweland, H.H.P.J. Lemkes, W. Ruitenbeek et al. · Nature Genetics · 1992 · 1.1K citations

, , +15

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Y. Tatuch, John Christodoulou, Annette Feigenbaum et al. · PubMed · 1992 · 485 citations

, , +9

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

Carlos T. Moraes, Federica Ciacci, Gabriella Silvestri et al. · Neuromuscular Disorders · 1993 · 238 citations

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Extremely high levels of mutant mtDNAs co-localize with cytocohrome <i>c</i> oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

Vittorla Petruzzella, Carlos T. Moraes, Mary Sano et al. · Human Molecular Genetics · 1994 · 118 citations

, , +17