Classical MERRF phenotype associated with mitochondrial tRNALeu (m.3243A>G) mutation

The mitochondrial DNA transfer RNA ^Leu(UUR) A→G(3243) mutation: A clinical and genetic study

Simon Hammans, Mary G. Sweeney, Michael G. Hanna et al. · Brain · 1995 · 147 citations

Life Sciences, Genetics, Molecular Genetics +17

Patient homozygous for a recessive <i>POLG</i> mutation presents with features of MERRF

G. Van Goethem, R. Mercelis, A. Löfgren et al. · Neurology · 2003 · 74 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical and Brain MR Imaging Features Focusing on the Brain Stem and Cerebellum in Patients with Myoclonic Epilepsy with Ragged-Red Fibers due to Mitochondrial A8344G Mutation

Sadayoshi Ito, Wakako Shirai, Masato Asahina et al. · American Journal of Neuroradiology · 2007 · 54 citations · Full text

Medicine, Neurology, Neuroscience +17

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations

P. Corona, Eleonora Lamantea, M. Gréco et al. · Annals of Neurology · 2001 · 50 citations

Life Sciences, Genetics, Molecular Genetics +16

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

G Fabrizi, Elena Cardaioli, G.S. Grieco et al. · Journal of Neurology Neurosurgery & Psychiatry · 1996 · 49 citations · Full text

Life Sciences, Genetics, Neurology +16