A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNAVal mutation
- 22 April 2011
- journal article
- case report
- Published by Elsevier BV in Biochemical and Biophysical Research Communications
- Vol. 407 (4), 747-752
- https://doi.org/10.1016/j.bbrc.2011.03.094
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseasesExperimental & Molecular Medicine, 2010
- The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh SyndromeArchives of Neurology, 2008
- Prevalence of mitochondrial DNA disease in adultsAnnals of Neurology, 2007
- Pathogenic mitochondrial DNA mutations in protein‐coding genesMuscle & Nerve, 2007
- Mitochondrial Respiratory-Chain DiseasesNew England Journal of Medicine, 2003
- Mitochondrial CytopathiesZeitschrift für Neurologie, 2003
- Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations?Annals of Neurology, 2002
- An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndromeEuropean Journal of Human Genetics, 2001
- A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patientsAnnals of Neurology, 2001
- Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELASBiochemical and Biophysical Research Communications, 1997