No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Blepharoptosis / genetics
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Blepharoptosis / physiopathology
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Brain / pathology
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Brain / physiopathology
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Chromosome Disorders / genetics
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Chromosome Disorders / physiopathology*
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DNA Mutational Analysis
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Dementia, Vascular / genetics
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Dementia, Vascular / pathology
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Dementia, Vascular / physiopathology*
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Electron Transport / genetics
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Female
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Gastrointestinal Diseases / diagnosis*
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Gastrointestinal Diseases / genetics
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Genes, Recessive / genetics*
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Genetic Markers / genetics
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Humans
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Magnetic Resonance Imaging
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Middle Aged
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Mitochondrial Diseases / genetics
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Mitochondrial Diseases / pathology
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Mitochondrial Diseases / physiopathology*
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Mutation / genetics
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Ophthalmoplegia / genetics
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Ophthalmoplegia / physiopathology
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Peripheral Nervous System Diseases / genetics
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Peripheral Nervous System Diseases / physiopathology
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Thymidine Phosphorylase / genetics*
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Tremor / genetics
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Tremor / physiopathology
Substances
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Genetic Markers
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Thymidine Phosphorylase