University of Massachusetts Medical School Faculty Publications

Title

Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama

UMMS Affiliation

Department of Neurology

Publication Date

1-2013

Document Type

Article

Subjects

Adult; Humans; Male; Muscle Cramp; Muscle Weakness; Muscle, Skeletal; Phosphoglycerate Mutase

Disciplines

Musculoskeletal Diseases | Nervous System Diseases | Neurology

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.

DOI of Published Version

10.1002/mus.23527

Source

Muscle Nerve. 2013 Jan;47(1):138-40. doi: 10.1002/mus.23527. Epub 2012 Nov 21. Link to article on publisher's site

Related Resources

Link to Article in PubMed

Journal/Book/Conference Title

Muscle and nerve

PubMed ID

23169535

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