Mitochondrial DNA mutations in multiple symmetric lipomatosis

Detection of specific sequences among DNA fragments separated by gel electrophoresis

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

Life Sciences, Molecular Biology, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +16

Muscle Biopsy: A Practical Approach

Anthony J. Bourne · Pathology · 1986 · 581 citations

Medicine, Pathology, Histology +10

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

Life Sciences, Genetics, Molecular Genetics +16