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Page 1
Metabolic myopathies.
Tein I. Tein I. Semin Pediatr Neurol. 1996 Jun;3(2):59-98. doi: 10.1016/s1071-9091(96)80038-6. Semin Pediatr Neurol. 1996. PMID: 8795843 Review.
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, V …
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid ma …
PGAM5 interacts with and maintains BNIP3 to license cancer-associated muscle wasting.
Zhang Q, Chen C, Ma Y, Yan X, Lai N, Wang H, Gao B, Gu AM, Han Q, Zhang Q, La L, Sun X. Zhang Q, et al. Autophagy. 2024 Oct;20(10):2205-2220. doi: 10.1080/15548627.2024.2360340. Epub 2024 Jun 26. Autophagy. 2024. PMID: 38919131 Free PMC article.
Finally, we identify S100A9 as a pro-cachectic chemokine via activating AGER/RAGE. AGER deficiency or S100A9 inhibition restrains skeletal muscle loss by weakening the interaction between PGAM5 and BNIP3. ...Abbreviation: AGER/RAGE: advanced glycation end-product specific …
Finally, we identify S100A9 as a pro-cachectic chemokine via activating AGER/RAGE. AGER deficiency or S100A9 inhibition restrains ske …
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.
Koo B, Oskarsson B. Koo B, et al. Neuromuscul Disord. 2016 Oct;26(10):688-690. doi: 10.1016/j.nmd.2016.08.002. Epub 2016 Aug 11. Neuromuscul Disord. 2016. PMID: 27612597
Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we report a novel disease-causing variant. ...This case expands the genetic spectrum of phosphoglycerate mutase deficiency... …
Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we rep …
Muscle phosphoglycerate mutase deficiency.
DiMauro S, Miranda AF, Olarte M, Friedman R, Hays AP. DiMauro S, et al. Neurology. 1982 Jun;32(6):584-91. doi: 10.1212/wnl.32.6.584. Neurology. 1982. PMID: 6283419
Studies of anaerobic glycolysis in vitro showed decrease lactate formation with glycogen and with all hexosephosphate glycolytic intermediates, suggesting a defect below the phosphofructokinase reaction. Muscle phosphoglycerate mutase (PGAM) activity was 5.7% of the lowest …
Studies of anaerobic glycolysis in vitro showed decrease lactate formation with glycogen and with all hexosephosphate glycolytic intermediat …
Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy.
Vita G, Toscano A, Bresolin N, Meola G, Fortunato F, Baradello A, Barbiroli B, Frassineti C, Zaniol P, Messina C. Vita G, et al. J Neurol. 1994 Mar;241(5):289-94. doi: 10.1007/BF00868435. J Neurol. 1994. PMID: 8006681
Muscle phosphoglycerate mutase (PGAM) deficiency has been so far identified in only six patients, five of these being African Americans. ...The deficiency of PGAM-MM isoenzyme was reproduced in the patient's innervated muscle culture. ...
Muscle phosphoglycerate mutase (PGAM) deficiency has been so far identified in only six patients, five of these being African …
Muscle phosphoglycerate mutase (PGAM) deficiency: a second case.
Bresolin N, Ro YI, Reyes M, Miranda AF, DiMauro S. Bresolin N, et al. Neurology. 1983 Aug;33(8):1049-53. doi: 10.1212/wnl.33.8.1049. Neurology. 1983. PMID: 6308514
Intermediate PGAM activities (39 and 50% of normal) were found in muscle biopsies from the patient's asymptomatic parents. These data confirm the clinical, morphologic, and biochemical features described in the first patient with PGAM deficiency and suggest a …
Intermediate PGAM activities (39 and 50% of normal) were found in muscle biopsies from the patient's asymptomatic parents. These data …
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.
Toscano A, Tsujino S, Vita G, Shanske S, Messina C, Dimauro S. Toscano A, et al. Muscle Nerve. 1996 Sep;19(9):1134-7. doi: 10.1002/(SICI)1097-4598(199609)19:9<1134::AID-MUS8>3.0.CO;2-0. Muscle Nerve. 1996. PMID: 8761269
Human muscle phosphoglycerate mutase (PGAM-M) deficiency is associated with exercise intolerance, muscle cramps, chronic serum CK elevation, and recurrent episodes of myoglobinuria. ...His sister, who had similar complaints, was also homozygous for this mutation whi …
Human muscle phosphoglycerate mutase (PGAM-M) deficiency is associated with exercise intolerance, muscle cramps, chronic serum …
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.
Tonin P, Bruno C, Cassandrini D, Savio C, Tavazzi E, Tomelleri G, Piccolo G. Tonin P, et al. Neuromuscul Disord. 2009 Nov;19(11):776-8. doi: 10.1016/j.nmd.2009.08.007. Epub 2009 Sep 23. Neuromuscul Disord. 2009. PMID: 19783439
Phosphoglycerate mutase (PGAM) deficiency causes a rare metabolic myopathy characterized by exercise-related myalgia and myoglobinuria. ...Muscle biopsy showed only mild abnormalities, but biochemical study revealed a defect of PGAM and genetic analysis showe …
Phosphoglycerate mutase (PGAM) deficiency causes a rare metabolic myopathy characterized by exercise-related myalgia and myogl …
RB1 controls differentiation through positive regulation of phosphoglycerate mutases.
Kohno S, Okahashi N, Wan Y, Yu H, Takegami Y, Linn P, Nagatani N, Kitajima S, Kawada T, Matsuda F, Shimizu H, Takahashi C. Kohno S, et al. Cell Death Dis. 2025 Jul 24;16(1):559. doi: 10.1038/s41419-025-07850-3. Cell Death Dis. 2025. PMID: 40707487 Free PMC article.
Later, we found that RB1 positively controls PGAM1 as well in different tissues. RB1 deficiency induced a metabolic shift in the glycolytic pathway in a manner compatible with PGAM downregulation. Many of the metabolic features induced by RB1 loss were antagonized b …
Later, we found that RB1 positively controls PGAM1 as well in different tissues. RB1 deficiency induced a metabolic shift in the glyc …
Muscle phosphoglycerate mutase deficiency revisited.
Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Naini A, et al. Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. Arch Neurol. 2009. PMID: 19273759
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 ori …
BACKGROUND: Phosphoglycerate mutase (PGAM) deficiency (glycogen storage disease type X) has …
35 results