A novel mitochondrial m.4414T> C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Mitochondrial disorders are clinically and genetically heterogeneous and are caused by mutations in genes of both mitochondrial DNA (mtDNA) and nuclear DNA. Of the mtDNA point mutations causing mitochondrial disease, ∼50% involve mitochondrial (mt-)tRNA genes [1–3]. Pathogenic mt-tRNA mutations typically display heteroplasmy, the presence of both wild type and mutant mtDNA molecules in a cell, and are often associated with the presence of focal ragged red fibres (RRFs) and cytochrome c oxidase (COX)-deficien t fibres in skeletal muscle, leading to a combined respiratory chain deficiency reflecting a disorder of generalised mitochondrial translation.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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Source: Mitochondrion - Category: Biochemistry Source Type: research
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Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
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Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
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Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: Original Article Source Type: research
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Source: Biochimica et Biophysica Acta (BBA) Biomembranes - Category: Biochemistry Source Type: research
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Source: JAIDS Journal of Acquired Immune Deficiency Syndromes - Category: Infectious Diseases Tags: Basic Science Source Type: research
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Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
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Source: Acta Pharmacologica Sinica - Category: Drugs & Pharmacology Authors: Tags: Acta Pharmacol Sin Source Type: research
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