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

[1]  Kristin Santa.  Treatment Options for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke‐Like Episodes (MELAS) Syndrome , 2010, Pharmacotherapy.

[2]  S. Saitoh,et al.  MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes , 2010, Journal of Medical Genetics.

[3]  T. Hattori,et al.  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 , 2008, American Journal of Neuroradiology.

[4]  A. Padovani,et al.  Neuropathology of mitochondrial diseases , 2007, Bioscience reports.

[5]  A. Boneh,et al.  Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases , 2004, Journal of Inherited Metabolic Disease.

[6]  S. Seneca,et al.  Patient homozygous for a recessive POLG mutation presents with features of MERRF , 2003, Neurology.

[7]  M. Zeviani,et al.  Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations , 2002, Annals of neurology.

[8]  G. Guazzi,et al.  The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. , 1996, Journal of neurology, neurosurgery, and psychiatry.

[9]  A. Harding,et al.  The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. , 1995, Brain : a journal of neurology.

[10]  T. Torbergsen,et al.  The 3243 MELAS mutation in a pedigree with MERRF. , 1995, European neurology.

[11]  J. Pearn.  A Clinical and Genetic Study , 1978 .