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  • Book
    edited by Lee-Jun C. Wong.
    Digital : Springer2012
    Mitochondrial DNA mutations : an overview of clinical and molecular aspects / William J. Craigen -- Nuclear gene defects in mitochondrial disorders / Fernando Scaglia -- Diagnostic challenges of mitochondrial disorders : complexities of two genomes / Brett H. Graham -- Biochemical analyses of the electron transport chain complexes by spectrophotometry / Ann E. Frazier and David R. Thorburn -- Measurement of mitochondrial oxygen consumption using a Clark electrode / Zhihong Li and Brett H. Graham -- Mitochondrial respiratory chain : biochemical analysis and criterion for deficiency in diagnosis / Manuela M. Grazina -- Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity / Douglas Kerr, George Grahame, and Ghunwa Nakouzi -- Assessment of thymidine phosphorylase function : measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity / Ramon Martí, Luis C. López, and Michio Hirano -- Measurement of mitochondrial dNTP pools / Ramon Martí, Beatriz Dorado, and Michio Hirano -- Measurement of oxidized and reduced coenzyme Q in biological fluids, cells, and tissues : an HPLC-EC method / Peter H. Tang and Michael V. Miles -- Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS / Si Houn Hahn, Sandra Kerfoot, and Valeria Vasta -- Morphological assessment of mitochondrial respiratory chain function on tissue sections / Kurenai Tanji -- Blue native polyacrylamide gel electrophoresis : a powerful diagnostic tool for the detection of assembly defects in the enzyme complexes of oxidative phosphorylation / Scot C. Leary -- Radioactive labeling of mitochondrial translation products in cultured cells / Florin Sasarman and Eric A. Shoubridge -- Transmitochondrial cybrids : tools for functional studies of mutant mitochondria / Sajna Antony Vithayathil, Yewei Ma, and Benny Abraham Kaipparettu -- Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines / Stephen Dingley, Kimberly A. Chapman, and Marni J. Falk -- Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans / Erzsebet Polyak, Zhe Zhang, and Marni J. Falk -- Analysis of common mitochondrial DNA mutations by allele-specific oligonucleotide and southern blot hybridization / Sha Tang [and others] -- Sequence analysis of the whole mitochondrial genome and nuclear genes causing mitochondrial disorders / Megan L. Landsverk, Megan E. Cornwell, and Meagan E. Palculict -- Utility of array CGH in molecular diagnosis of mitochondrial disorders / Jing Wang and Mrudula Rakhade -- Quantification of mtDNA mutation heteroplasmy (ARMS qPCR) / Victor Venegas and Michelle C. Halberg -- Measurement of mitochondrial DNA copy number / Victor Venegas and Michelle C. Halberg -- Determination of the clinical significance of an unclassified variant / Victor Wei Zhang and Jing Wang.