Abstract
Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (APTX) mutation that causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Substitution
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Child, Preschool
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Chromosomes, Human, Pair 9 / genetics
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DNA Mutational Analysis
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DNA-Binding Proteins / deficiency
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DNA-Binding Proteins / genetics*
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DNA-Binding Proteins / physiology
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Exons / genetics
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Female
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Genes, Recessive
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Humans
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Hyperlipoproteinemia Type II / genetics
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Hypoalbuminemia / genetics*
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Infant
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Lod Score
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Male
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Muscle Weakness / genetics
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Muscle, Skeletal / chemistry
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Muscle, Skeletal / pathology
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Mutation, Missense
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Nuclear Proteins / deficiency
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Nuclear Proteins / genetics*
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Nuclear Proteins / physiology
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Phenotype
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Point Mutation
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Spinocerebellar Degenerations / drug therapy
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Spinocerebellar Degenerations / genetics*
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Ubiquinone / deficiency*
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Ubiquinone / therapeutic use
Substances
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APTX protein, human
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DNA-Binding Proteins
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Nuclear Proteins
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Ubiquinone