No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Age of Onset
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Ataxia / genetics*
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Blindness / etiology
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Blindness / genetics
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Child
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Constipation / etiology
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DNA / genetics
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Deglutition Disorders / etiology
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Female
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GTP Phosphohydrolases / genetics*
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GTP Phosphohydrolases / metabolism
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Hearing Loss / genetics*
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Heterozygote
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Humans
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Intellectual Disability / genetics*
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Magnetic Resonance Imaging
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Male
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Mutation / genetics
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Mutation / physiology
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Optic Atrophy / congenital*
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Optic Atrophy / genetics
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Optic Atrophy, Autosomal Dominant / complications
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Optic Atrophy, Autosomal Dominant / genetics
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Optic Atrophy, Autosomal Dominant / pathology
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Peripheral Nervous System Diseases / complications
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Peripheral Nervous System Diseases / genetics
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Peripheral Nervous System Diseases / pathology
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Spasm / genetics*
Substances
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DNA
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GTP Phosphohydrolases
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OPA1 protein, human