Oxidative phosphorylation defect in the
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FranΓ§ois Dubeau; Nicola De Stefano; Benjamin G. Zifkin; Douglas L. Arnold; Eric
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Article
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2000
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John Wiley and Sons
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English
β 312 KB
MELAS is a mitochondrial encephalomyopathy characterized clinically by recurrent stroke-like episodes, seizures, sensorineural deafness, dementia, hypertrophic cardiomyopathy, and short stature. The majority of patients are heteroplasmic for a mutation (A3243G) in the tRNA leu(UUR) gene in mitochond