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Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood.All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytostolic phosphorylation potential.Two of the 4 patients had abnormally low resonance intensities from phosphocreatine and an abnormally high calculated cytostolic free adenosine diphophate concentration.These abnormalities are indicative of mitochondrial dysfunction.The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease. |
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