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Intro; Preface; Mitochondrial Medicine: 30 Years Old, Much to Learn; Contents; Mitochondrial Medicine: A Historical Point of View; Introduction; 1950-1980; Leigh Syndrome; Chronic Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome; Luft Disease; Biochemical Classification of Mitochondrial Disease; 1980-1987; The Mapping of Human Mitochondrial DNA; 1989-2012; Mitochondrial Encephalomyopathies with CoQ10 Deficiency; Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS); 1988-1995; Mutations in the Mitochondrial DNA
The mtDNA Bottleneck and Challenge in Genetic Counselling1996-2010; Maintenance Defects of Mitochondrial DNA; Clinical Rating Scales for Longitudinal Study; Establishment of the Prevalence of Mitochondrial Disease; 2011-2017; Revolution of Genetic Diagnosis with the Next-Generation Sequencing; Natural History and Cohort Studies; Treatment and Emerging Therapies for Mitochondrial Disease; Reproductive Options and Mitochondrial Donation; Conclusions; References; Mitochondria: Muscle Morphology; Introduction; Light Microscopy Studies; Succinate Dehydrogenase; Cytochrome c Oxidase
SDH-COX Double StainMyopathology of Pediatric Mitochondrial Disorders; Immunocytochemistry; Immunolocalization of Nuclear DNA- and Mitochondrial DNA-Encoded Subunits of Respiratory Chain; Immunolocalization of Mitochondrial DNA; Electron Microscopy; Paracrystalline (Parking Lot) Inclusions (PCIs); Cristae Modifications; Mitochondria Hyperbranching; Fission and Fusion; Mitochondrial Morphology as a Tool for Basic Research and Treatment Implications; References; Mitochondrial Disease Genetics; Introduction; Genetic Etiologies of Primary Mitochondrial Disease
MtDNA Causes of Mitochondrial DiseaseClasses of mtDNA Genes; Nuclear DNA Causes of Mitochondrial Disease; Inheritance of Nuclear Gene Causes of Mitochondrial Disease; Classes of nDNA Genes that Cause Primary Mitochondrial Disease; Identifying and Confirming Molecular Causes of Primary Mitochondrial Disease; Mitochondrial Genome Variant Curation and Deposition; Genomic Testing Technical Specifications; Whole Exome Sequencing (WES); Whole Genome Sequencing (WGS); RNA Sequencing (RNA-seq); Conclusion; References; Epidemiology of Mitochondrial Disease; Introduction
What Do We Include as 'Primary Mitochondrial Disease'?What Obstacles Are There to the Epidemiology Study of Mitochondrial Disease?; Epidemiology Studies; Population-Based Studies of mtDNA Mutations; Prevalence of Mitochondrial Disease Within Defined Geographic Populations; Prevalence of mtDNA Mutations Within Defined Disease Cohorts; Diabetes; Deafness; Optic Neuropathy; Conclusion; References; Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS); Introduction; Clinical Diagnosis; Clinical Symptoms; Review of Symptoms by Organ System
The mtDNA Bottleneck and Challenge in Genetic Counselling1996-2010; Maintenance Defects of Mitochondrial DNA; Clinical Rating Scales for Longitudinal Study; Establishment of the Prevalence of Mitochondrial Disease; 2011-2017; Revolution of Genetic Diagnosis with the Next-Generation Sequencing; Natural History and Cohort Studies; Treatment and Emerging Therapies for Mitochondrial Disease; Reproductive Options and Mitochondrial Donation; Conclusions; References; Mitochondria: Muscle Morphology; Introduction; Light Microscopy Studies; Succinate Dehydrogenase; Cytochrome c Oxidase
SDH-COX Double StainMyopathology of Pediatric Mitochondrial Disorders; Immunocytochemistry; Immunolocalization of Nuclear DNA- and Mitochondrial DNA-Encoded Subunits of Respiratory Chain; Immunolocalization of Mitochondrial DNA; Electron Microscopy; Paracrystalline (Parking Lot) Inclusions (PCIs); Cristae Modifications; Mitochondria Hyperbranching; Fission and Fusion; Mitochondrial Morphology as a Tool for Basic Research and Treatment Implications; References; Mitochondrial Disease Genetics; Introduction; Genetic Etiologies of Primary Mitochondrial Disease
MtDNA Causes of Mitochondrial DiseaseClasses of mtDNA Genes; Nuclear DNA Causes of Mitochondrial Disease; Inheritance of Nuclear Gene Causes of Mitochondrial Disease; Classes of nDNA Genes that Cause Primary Mitochondrial Disease; Identifying and Confirming Molecular Causes of Primary Mitochondrial Disease; Mitochondrial Genome Variant Curation and Deposition; Genomic Testing Technical Specifications; Whole Exome Sequencing (WES); Whole Genome Sequencing (WGS); RNA Sequencing (RNA-seq); Conclusion; References; Epidemiology of Mitochondrial Disease; Introduction
What Do We Include as 'Primary Mitochondrial Disease'?What Obstacles Are There to the Epidemiology Study of Mitochondrial Disease?; Epidemiology Studies; Population-Based Studies of mtDNA Mutations; Prevalence of Mitochondrial Disease Within Defined Geographic Populations; Prevalence of mtDNA Mutations Within Defined Disease Cohorts; Diabetes; Deafness; Optic Neuropathy; Conclusion; References; Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS); Introduction; Clinical Diagnosis; Clinical Symptoms; Review of Symptoms by Organ System