The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction

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

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Michio Hirano, Gabriella Silvestri, D. M. Blake et al. · Neurology · 1994 · 407 citations

Life Sciences, Neurology, Neuroscience +17

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

Gabriella Silvestri, Carlos T. Moraes, Sara Shanske et al. · PubMed · 1992 · 227 citations

Life Sciences, Genetics, Molecular Genetics +15

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

A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNA^Lys Gene

Massimo Zeviani, Francesco Muntoni, N Savarese et al. · European Journal of Human Genetics · 1993 · 159 citations

Life Sciences, Genetics, Molecular Genetics +14