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Muscle Phosphoglycerate Mutase Deficiency Revisited

1 Mar 2009

Abstract excerpt

BACKGROUND: Phosphoglycerate mutase (PGAM) deficiency (glycogen storage disease type X) has been reported in 12 patients of whom 9 were African American. OBJECTIVE: To describe 2 patients, 1 of Pakistani and 1 of Italian ethnic origin, with typical clinical and biochemical changes of glycogen storage disease type X and novel mutations in the gene encoding the muscle subunit of PGAM (PGAM2). DESIGN: Clinical,...

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PMID: 19273759
DOI: 10.1001/archneurol.2008.584

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