Concepedia

Mitochondrial DNA mutations in multiple symmetric lipomatosis

Thomas Klopstock, Markus Naumann, Peter Seibel, Bertold Shalke, Karlheinz Reiners, Heinz Reichmann

Molecular and Cellular Biochemistry · 1997 · 66 citations · 14 references

DOI

Concepts

References

14

Detection of specific sequences among DNA fragments separated by gel electrophoresis

E.M. Southern · Journal of Molecular Biology · 1975 · 32.8K 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

Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”)

Gabriella Silvestri, Emma Ciafaloni, Filippo M. Santorelli et al. · Neurology · 1993 · 202 citations

, , +16

Mitochondrial dysfunction in multiple symmetrical lipomatosis

Samuel F. Berkovic, Frédérick Andermann, Eric A. Shoubridge et al. · Annals of Neurology · 1991 · 127 citations

, , +14