Abstract
A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patient's muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.
Publication types
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Case Reports
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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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Adult
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Amino Acid Sequence
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Animals
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Base Sequence
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Coenzymes
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Conserved Sequence
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Cytochrome b Group / genetics*
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DNA, Mitochondrial / genetics*
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Electron Transport Complex III / deficiency
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Evolution, Molecular
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Exercise / physiology
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Female
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Folic Acid / therapeutic use
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Humans
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Magnetic Resonance Spectroscopy
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Mitochondria, Muscle / metabolism
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Mitochondrial Myopathies / drug therapy
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Mitochondrial Myopathies / genetics*
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Mitochondrial Myopathies / metabolism
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Molecular Sequence Data
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Muscle, Skeletal / metabolism
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Mutation, Missense*
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Phosphates / metabolism
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Phosphocreatine / metabolism
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Sequence Alignment
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Sequence Homology, Amino Acid
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Ubiquinone / analogs & derivatives
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Ubiquinone / therapeutic use
Substances
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Coenzymes
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Cytochrome b Group
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DNA, Mitochondrial
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Phosphates
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Phosphocreatine
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Ubiquinone
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Folic Acid
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Electron Transport Complex III
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coenzyme Q10