Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene

Neuromuscular Disorders

Volumn 19, Issue 11, 2009, Pages 776-778

  Tonin, Paola ^a   Bruno, Claudio ^c   Cassandrini, Denise ^c   Savio, Chiara ^a   Tavazzi, Eleonora ^b   Tomelleri, Giuliano ^a   Piccolo, Giovanni ^b  

^a UNIVERSITY OF VERONA   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Glycogenosis; Phosphoglycerate mutase

Indexed keywords

CREATINE KINASE; PHOSPHOGLYCERATE MUTASE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DIZZINESS; ENZYME DEFICIENCY; EXERCISE TEST; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MUSCLE BIOPSY; MYALGIA; MYOGLOBINURIA; NEUROLOGIC EXAMINATION; PHOSPHOGLYCERATE MUTASE DEFICIENCY; PRIORITY JOURNAL; SYNCOPE;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUSCULAR DISEASES; MUTATION; PHOSPHOGLYCERATE MUTASE; YOUNG ADULT;

EID: 70350043313     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.08.007     Document Type: Article

References (13)

1. Di Mauro S., Miranda A.F., Khan S., Gitlin K., and Friedman R. Human muscle phosphoglycerate mutase deficiency: a new cause of recurrent myoglobinuria. Science 212 (1981) 1277-1279
2. Edwards Y.H., Sakoda S., Schon E.A., and Povey S. The gene for human muscle-specific phosphoglycerate mutase. PGAM2, mapped to chromosome 7 by polymerase chain reaction. Genomics 5 (1989) 948-951
3. Di Mauro S., Hays A.P., and Tsujino S. Nonlysosomal glycogenosis. In: Engel A.G., and Franzini-Armstrong C. (Eds). Myology (2004), McGraw-Hill, New York 1535-1558
4. Naini A., Toscano A., Musumeci O., Vissing J., Akman H.O., and DiMauro S. Muscle phosphoglycerate mutase (PGAM) deficiency revisited. Arch Neurol 66 (2009) 394-398
5. DiMauro S., Bresolin N., and Hays A.P. Disorders of glycogen metabolism of muscle. CRC Crit Rev Clin Neurobiol 1 (1984) 83-116
6. Toscano A., Tsujino S., Vita G., Shanske S., Messina C., and DiMauro S. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. Muscle Nerve 19 (1996) 1134-1137
7. Hadjigeorgiou G.M., Kawashima N., Bruno C., Andreu A.L., Sue C.M., Rigden D.J., et al. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. Neuromuscul Disord 9 (1999) 309-402
8. Vissing J., Quistorff B., and Haller R.G. Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. Arch Neurol 62 (2005) 1440-1443
9. Kissel J.T., Beam W., Bresolin N., Gibbons G., Di Mauro S., and Mendell J.R. Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. Neurology 35 (1985) 828-833
10. Vissing J., Schmalbruch H., Haller R.G., and Clausen T. Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene. Ann Neurol 46 (1999) 274-277
11. Oh S.J., Park K.S., Ryan Jr. H.S., et al. Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. Muscle Nerve 34 (2006) 572-576
12. Wilkinson D.A., Tonin P., Shanske S., Lombes A., Carlson G.M., and DiMauro S. Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. Neurology 44 (1994) 461-466
13. Spiegel R., Gomez E.A., Akman H.O., Krishna S., Horovitz Y., and DiMauro S. Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations. Neuromuscul Disord 19 (2009) 207-211