Concepedia

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

Carlos T. Moraes, Federica Ciacci, Gabriella Silvestri, Sara Shanske, Monica Sciacco, Michio Hirano, Eric A. Schon, E. Bonilla, S. DiMauro

Neuromuscular Disorders · 1993 · 238 citations · 36 references

DOI

Concepts

References

36

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

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

, , +16

Muscle biopsy: A modern approach

Journal of the Neurological Sciences · 1975 · 1.4K citations

, , +11

Muscle Biopsy: A Modern Approach

Peter Tsairis · Archives of Neurology · 1974 · 1.4K citations

, , +11