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Title: Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood. Author: Arnold DL, Silver K, Andermann F. Journal: Ann Neurol; 1993 Jun; 33(6):604-7. PubMed ID: 8498840. Abstract: 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 cytosolic phosphorylation potential. Two of the 4 patients had abnormally low resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphate 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.[Abstract] [Full Text] [Related] [New Search]