{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:41:16Z","timestamp":1790516476056,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":7950,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1983,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A 14\u2010year\u2010old boy had myoglobinuria and renal failure after intense exercise; a year earlier he had experienced a milder episode. There was no consanguinity and no family history of neuromuscular diseases or hemolytic anemia. Strength was normal. Forearm ischemic exercise caused prolonged contracture with no rise of venous lactate. Muscle morphology showed only a mild increase of lipid droplets. Glycogen concentration was normal. Muscle phosphoglycerate kinase (PGK) activity was 5% of the normal mean, and all other glycolytic enzymes were normal. The residual PGK activity of muscle was heat stable but showed slower than normal electrophoretic mobility and decreased Michaelis constants for 3\u2010phosphoglycerate and adenosine triphosphate. The enzyme defect was also expressed in erythrocytes and in fibroblast and muscle cultures. PGK activity was decreased in tissues from the patient's mother but normal in the father. PGK deficiency is an X\u2010linked recessive trait usually associated with hemolytic anemia, mental retardation, and seizures; myopathy had not been recognized previously. Muscle PGK deficiency is now added to two other newly recognized glycolytic defects, phosphoglycerate mutase and lactate dehydrogenase deficiencies, as a cause of recurrent myoglobinuria.<\/jats:p>","DOI":"10.1002\/ana.410130104","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T08:40:02Z","timestamp":1104568802000},"page":"11-19","source":"Crossref","is-referenced-by-count":74,"title":["Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuria"],"prefix":"10.1002","volume":"13","author":[{"given":"Salvatore","family":"DiMauro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinos","family":"Dalakas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armand F.","family":"Miranda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.1973.tb00333.x"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197603112941102"},{"key":"e_1_2_1_4_2","first-page":"425","volume-title":"Methods of Enzymatic Analysis","author":"Bergmeyer HU","year":"1974"},{"key":"e_1_2_1_5_2","first-page":"495","article-title":"D\u00e9ficit en 3\u2010phosphoglyc\u00e9rate kinase \u00e9rythrocytaire et leukocytaire","volume":"14","author":"Boivin P","year":"1974","journal-title":"Nouv Rev Fr Hematol"},{"key":"e_1_2_1_6_2","first-page":"565","article-title":"An\u00e9mie h\u00e9molytique cong\u00e9nitale associ\u00e9e \u00e0 un d\u00e9ficit en phosphoglyc\u00e9ratekinase dans les globules rouges, les polynucl\u00e9aires et les lymphocytes","volume":"11","author":"Cartier P","year":"1971","journal-title":"Nouv Rev Fr Hematol"},{"key":"e_1_2_1_7_2","first-page":"229","article-title":"Phosphogiycerate kinase: additional variants and their geographic distribution","volume":"24","author":"Chen SH","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_2","first-page":"87","article-title":"Phosphoglycerate kinase: an X\u2010linked polymorphism in man","volume":"23","author":"Chen SH","year":"1971","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_2","first-page":"175","volume-title":"Handbook of Clinical Neurology","author":"DiMauro S","year":"1979"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4115.929"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410050504"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.6262916"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.6.584"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880030502"},{"key":"e_1_2_1_15_2","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/S0021-9258(18)76122-X","article-title":"Spectrophotometric studies: I. 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