Abstract
Dos nuevos casos de sindrome de Leigh por mutacion m.13513G>A en el gen MTND5.
MeSH terms
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Blepharoptosis / genetics
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DNA, Mitochondrial / genetics*
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Disease Progression
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Electron Transport Complex I / genetics*
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Electron Transport Complex I / physiology
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Female
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Fetal Growth Retardation / genetics
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Gastrointestinal Diseases / genetics
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Genetic Heterogeneity
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Humans
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Infant
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Intellectual Disability / genetics
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Leigh Disease / genetics*
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Male
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Mitochondrial Proteins / genetics*
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Mitochondrial Proteins / physiology
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Mutation, Missense*
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Ophthalmoplegia / genetics
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Phenotype
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Point Mutation*
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Wolff-Parkinson-White Syndrome / genetics
Substances
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DNA, Mitochondrial
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Mitochondrial Proteins
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MT-ND5 protein, human
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Electron Transport Complex I