Mitochondrial Disorders

Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects.- Nuclear Gene Defects in Mitochondrial Disorders.- Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes.- Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry.- Measurement of Mitochondrial Oxygen Consumption Using A Clark Electrode.- Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis.- Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity.- Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphosphorylase Activity.- Measurement of Mitochondrial dNTP Pools.- Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method.- Assay to Measure Oxidized and Reduced Forms of CoQ by LC-MS/MS.- Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections.- Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Diagnostic Tool for the Detection of Assembly Defects in the Enzyme Complexes of Oxidative Phosphorylation.- Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells.- Transmitochondrial Cybrids: Tools for Functional Studies of Mutant Mitochondria.- Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines.- Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans.- Analysis of Common Mitochondrial DNA Mutations by Allele-Specific Oligonucleotide and Southern Blot Hybridization.- Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders.- Utility of Array CGH in Molecular Diagnosis ofMitochondrial Disorders.- Quantification of mtDNA Mutation Heteroplasmy (ARMS qPCR).- Measurement of Mitochondrial DNA Copy Number.- Determination of the Clinical Significance of an Unclassified Variant.