β‐enolase deficiency, a new metabolic myopathy of distal glycolysis

doi:10.1002/ana.1095

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β‐enolase deficiency, a new metabolic myopathy of distal glycolysis

30 Jul 2001

Abstract excerpt

A severe muscle enolase deficiency, with 5% of residual activity, was detected in a 47-year-old man affected with exercise intolerance and myalgias. No rise of serum lactate was observed with the ischemic forearm exercise. Ultrastructural analysis showed focal sarcoplasmic accumulation of glycogen beta particles. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In...

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PMID: 11506403
DOI: 10.1002/ana.1095

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