David K Miller Minal J Menezes Cas Simons Lisa G Riley Sandra T Cooper Sean M Grimmond David R Thorburn John Christodoulou Ryan J Taft
10.1371/journal.pone.0104879
PLoS One
2014 Aug 12;9(8):e104879.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25118196/
DNA, Mitochondrial / genetics Electron Transport Complex I / genetics Leigh Disease / genetics Mutation, Missense
DNA, Mitochondrial / genetics Electron Transport Complex I / genetics Leigh Disease / genetics Mutation, Missense Case Reports Research Support, Non-U.S. Gov't Amino Acid Substitution Brain / pathology Child, Preschool DNA Mutational Analysis Electron Transport Complex I / metabolism Exome / genetics Female Genes, Mitochondrial High-Throughput Nucleotide Sequencing Humans Leigh Disease / diagnosis Leigh Disease / metabolism Magnetic Resonance Imaging Male Mutant Proteins / genetics Mutant Proteins / metabolism Pedigree Polymorphism, Single Nucleotide DNA, Mitochondrial Mutant Proteins Electron Transport Complex I MT-ND3 protein, human
PMC4130626
25118196
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient
2014