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Muscle Phosphoglycerate Mutase Deficiency Revisited
Ali Naini, PhD;
Antonio Toscano, MD;
Olimpia Musumeci, MD;
John Vissing, MD;
Hasan O. Akman, PhD;
Salvatore DiMauro, MD
Arch Neurol. 2009;66(3):394-398.
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, pathological, biochemical, and molecular analyses.
Setting Tertiary care university hospitals and academic institutions.
Patients A 37-year-old Danish man of Pakistani origin who had exercise-related cramps and myoglobinuria and a 65-year-old Italian man who had exercise intolerance and myalgia but no pigmenturia and had undergone long-term statin therapy.
Main Outcome Measures Clinical course and biochemical and molecular features.
Results Biochemical evidence showed severe isolated PGAM deficiency, and molecular studies revealed 2 novel homozygous mutations, a nonsense mutation and a single nucleotide deletion. Pathological studies of muscle showed mild glycogen accumulation but prominent tubular aggregates in both patients.
Conclusions We found that glycogen storage disease type X is not confined to the African American population, is often associated with sarcoplasmic reticulum (SR) proliferation, and is genetically heterogeneous.
Author Affiliations: Department of Neurology, Columbia University Medical Center, New York, New York (Drs Naini, Akman, and DiMauro); Departments of Neurosciences, Psychiatry, and Anesthesiology, University of Messina, Messina, Italy (Drs Toscano and Musumeci); and Department of Neurology, Neuromuscular Research Unit, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark (Dr Vissing).
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