Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama
dc.contributor.author | Salameh, Johnny | en_US |
dc.contributor.author | Goyal, Namita | en_US |
dc.contributor.author | Choudry, Rabia | en_US |
dc.contributor.author | Camelo‐piragua, Sandra | en_US |
dc.contributor.author | Chong, Peter Siao Tick | en_US |
dc.date.accessioned | 2013-01-03T19:41:00Z | |
dc.date.available | 2014-03-03T15:09:24Z | en_US |
dc.date.issued | 2013-01 | en_US |
dc.identifier.citation | Salameh, Johnny; Goyal, Namita; Choudry, Rabia; Camelo‐piragua, Sandra ; Chong, Peter Siao Tick (2013). "Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama." Muscle & Nerve 47(1): 138-140. <http://hdl.handle.net/2027.42/95158> | en_US |
dc.identifier.issn | 0148-639X | en_US |
dc.identifier.issn | 1097-4598 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/95158 | |
dc.description.abstract | Introduction: Phosphoglycerate mutase deficiency (PGAM) is a rare metabolic myopathy that results in terminal block in glycogenolysis. Clinically, patients with PGAM deficiency are asymptomatic, except when they engage in brief, strenuous efforts, which may trigger myalgias, cramps, muscle necrosis, and myoglobinuria. An unusual pathologic feature of PGAM deficiency is the association with tubular aggregates. Methods: We report an African‐American patient from Panama with partial deficiency of PGAM who presented with asymptomatic elevation of creatine kinase levels and tubular aggregates on muscle biopsy. Results: Muscle biopsies showed subsarcolemmal and sarcolemmal tubular aggregates in type 2 fibers. Muscle PGAM enzymatic activity was decreased and gene sequencing revealed a heterozygous mutation in codon 78 of exon 1 of the PGAM2 gene, which is located on the short arm of chromosome 7. Conclusions: PGAM deficiency has been reported in 14 patients, 9 of whom were of African‐American ethnicity, and in 5 (36%) tubular aggregates were seen on muscle biopsy. Contrary to previously reported cases, our patient was initially asymptomatic. This further expands the PGAM deficiency phenotype. Muscle Nerve, 2013 | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Glycogen‐Storage Disease Type X | en_US |
dc.subject.other | Tubular Aggregates | en_US |
dc.subject.other | CK Elevation | en_US |
dc.subject.other | Phosphoglycerate Mutase | en_US |
dc.subject.other | PGAM | en_US |
dc.title | Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Neurosciences | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pathology, University of Michigan, Ann Arbor, Michigan, USA | en_US |
dc.contributor.affiliationother | Department of Neurology University of Massachusetts Medical Center, 55 Lake Avenue North S5‐751, Worcester, Massachusetts 01605, USA | en_US |
dc.contributor.affiliationother | Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA | en_US |
dc.contributor.affiliationother | Department of the Neurosensory Sciences, Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA | en_US |
dc.contributor.affiliationother | Department of Neurology, Boston Medical Center, Boston, Massachusetts, USA | en_US |
dc.contributor.affiliationother | Department of Neurology University of Massachusetts Medical Center, 55 Lake Avenue North S5‐751, Worcester, Massachusetts 01605, USA | en_US |
dc.identifier.pmid | 23169535 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/95158/1/23527_ftp.pdf | |
dc.identifier.doi | 10.1002/mus.23527 | en_US |
dc.identifier.source | Muscle & Nerve | en_US |
dc.identifier.citedreference | Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Muscle phosphoglycerate mutase deficiency revisited. Arch Neurol 2009; 66: 394 – 398. | en_US |
dc.identifier.citedreference | Tonin P, Bruno C, Cassandrini D, Savio C, Tavazzi E, Tomelleri G, et al. Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM‐M gene. Neuromuscul Disord 2009; 19: 776 – 778. | en_US |
dc.identifier.citedreference | Vita G, Toscano A, Bresolin N, Meola G, Barbiroli B, Baradello A, et al. Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient. Neurology 1990; 40: 297. | en_US |
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dc.identifier.citedreference | Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S. Molecular genetic studies in muscle phosphoglycerate mutase (PGAM‐M) deficiency. Muscle Nerve 1995; 3 ( suppl ): S50 – 53. | en_US |
dc.identifier.citedreference | Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet 1993; 52: 472 – 477. | en_US |
dc.identifier.citedreference | Toscano A, Tsujino S, Vita G, Shanske S, Messina C, DiMauro S. Molecular basis of muscle phosphoglycerate mutase (PGAM‐M) deficiency in the Italian kindred. Muscle Nerve 1996; 19: 1134 – 1137. | en_US |
dc.identifier.citedreference | Toscano A, Musumeci O. Tarui disease and distal glycogenoses: clinical and genetic update. Acta Myol 2007; 26: 105 – 107. | en_US |
dc.identifier.citedreference | Oh SJ, Park KS, Ryan HF Jr, Danon MJ, Lu J, Naini AB, et al. Exercise‐induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. Muscle Nerve 2006; 34: 572 – 576. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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