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Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

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Authors
Oh, S. J.; Park, K. S.; Ryan, H. F., Jr.; Danon, M. J.; Lu, J.; Naini, A. B.; DiMauro, S.
Issue Date
2006-08-02
Publisher
Wiley-Blackwell
Citation
Muscle Nerve. 2006 Nov;34(5):572-6.
Keywords
AdolescentAdultAfrican Americans/geneticsBiopsyCreatine Kinase/bloodDNA Mutational AnalysisExercise TestExercise Tolerance/*geneticsFemaleHumansInclusion Bodies/enzymology/genetics/pathologyIschemia/enzymology/genetics/physiopathologyMaleMiddle AgedMuscle Cramp/enzymology/genetics/physiopathologyMuscle, Skeletal/*enzymology/pathology/physiopathologyMuscular Diseases/diagnosis/*enzymology/geneticsMutation, MissenseMyoglobinuria/*enzymology/genetics/physiopathologyPhosphoglycerate Mutase/*deficiency/geneticsSarcoplasmic Reticulum/enzymology/pathology
Abstract
We report two patients in whom phosphoglycerate mutase (PGAM) deficiency was associated with the triad of exercise-induced cramps, recurrent myoglobinuria, and tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels were elevated between attacks of myoglobinuria. Forearm ischemic exercise tests produced subnormal increases of venous lactate. Muscle biopsies showed subsarcolemmal tubular aggregates in type 2 fibers. Muscle PGAM activities were markedly decreased (3% of the normal mean) and molecular genetic studies showed that both patients were homozygous for a described missense mutation (W78X). A review of 15 cases with tubular aggregates in the muscle biopsies from our laboratory and 15 cases with PGAM deficiency described in the literature showed that this clinicopathological triad is highly suggestive of PGAM deficiency.
ISSN
0148-639X (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16881065

http://hdl.handle.net/10371/22550
DOI
https://doi.org/10.1002/mus.20622
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College of Medicine/School of Medicine (의과대학/대학원)Neuroscience (뇌신경과학전공)Journal Papers (저널논문_뇌신경과학전공)
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