Concepedia

Clinical Phenotype, Prognosis and Mitochondrial DNA Mutation Load in Mitochondrial Encephalomyopathies

Chin‐Chang Huang, Hung‐Chou Kuo, Chen-Che Chu, Chia‐Wei Liou, Yi‐Shing Ma, Yau‐Huei Wei

Journal of Biomedical Science · 2002 · 27 citations · 34 references

DOI

Concepts

References

34

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

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

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

, , +14

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 509 citations

, , +17

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

Yu‐ichi Goto, Satoshi Horai, T. Matsuoka et al. · Neurology · 1992 · 396 citations

, , +17