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OXPHOS mutations and neurodegeneration
Mitochondrial oxidative phosphorylation (OXPHOS) sustains organelle function and plays a central role in cellular energy metabolism. The OXPHOS system consists of 5 multisubunit complexes (CI–CV)Expand
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Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
Mitochondria are essential for cellular bioenergetics by way of energy production in the form of ATP through the process of oxidative phosphorylation. This crucial task is executed by fiveExpand
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A guide to diagnosis and treatment of Leigh syndrome
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by DenisExpand
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Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlyingExpand
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NDUFA2 complex I mutation leads to Leigh disease.
Mitochondrial isolated complex I deficiency is the most frequently encountered OXPHOS defect. We report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscleExpand
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Biotin Treatment Mimicking Graves' Disease.
In six children, biotin produced changes in thyroid-function tests that mimic those seen in Graves' disease.
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Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy
COA6/C1ORF31 is involved in cytochrome c oxidase (complex IV) biogenesis. We present a new pathogenic COA6 variant detected in a patient with neonatal hypertrophic cardiomyopathy and isolated complexExpand
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Genetic diagnosis of Mendelian disorders via RNA sequencing
Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genomeExpand
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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Molecular diagnosis of mitochondrial disorders is challenging because of extreme clinical and genetic heterogeneity. By exome sequencing, we identified three different bi-allelic truncating mutationsExpand
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Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
1 Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany 2 Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany 3 Department of Diagnostic andExpand
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