Medical Genetics ()Oxidation-Phosphorylation coupling ATP Synthase Luft's disease
Medical Genetics (4) Oxidation-Phosphorylation coupling ATP Synthase Luft's disease
Medical Genetics (5) Respiratory chain mtDNA mutations Intergenomic communication Multiple mtdna deletions mtDNA depletion Nuclear gene defects Tissue-specific Generalized Succinic dehydrogenase
Medical Genetics (5) Respiratory chain mtDNA mutations Intergenomic communication Multiple mtDNA deletions mtDNA depletion Nuclear gene defects Tissue-specific Generalized Succinic dehydrogenase
Medical Genetics (6) Lipid membrane defect Barth
Medical Genetics (6) Lipid membrane defect Barth
Medical Genetics (7) Nuclear gene defects
Medical Genetics (7) Nuclear gene defects
Medical Genetics 2. The Symptoms of Mitochondrial Disease Loss of muscle coordination, muscle weakness Neurological problems, seizures Visual and/or hearing problems Developmental delays, learning disabilities Heart liver or kidney disease Gastrointestinal disorders severe constipation Diabetes e Increased risk of infection Thyroid and/or adrenal dysfunction Autonomic dysfunction Neuropsychological changes characterized by confusion, disorientation and memory loss
Medical Genetics 2. The Symptoms of Mitochondrial Disease • Loss of muscle coordination, muscle weakness • Neurological problems, seizures • Visual and/or hearing problems • Developmental delays, learning disabilities • Heart, liver or kidney disease • Gastrointestinal disorders, severe constipation • Diabetes • Increased risk of infection • Thyroid and/or adrenal dysfunction • Autonomic dysfunction • Neuropsychological changes characterized by confusion, disorientation and memory loss