Concepedia

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

Simon Hammans, M G Sweeney, Martin Brockington, J A Morgan-Hughes, A. E. Harding

The Lancet · 1991 · 182 citations · 10 references

DOI

Concepts

References

10

Sequence and organization of the human mitochondrial genome

Stephen K. Anderson, Alan T. Bankier, B. G. Barrell et al. · Nature · 1981 · 9.7K citations

, , +12

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Douglas C. Wallace, Gurparkash Singh, Marie T. Lott et al. · Science · 1988 · 2.4K citations

, , +17

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

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

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Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

Carlos T. Moraes, Salvatore DiMauro, Massimo Zeviani et al. · New England Journal of Medicine · 1989 · 1K citations

, , +17