Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

Loren Pena, Katherine H Kim, Joel Charrow*

*Corresponding author for this work

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

Episodic myoglobinuria is a well-recognized complication of metabolic myopathies, and may occur in Duchenne and Becker dystrophies, but has only rarely been associated with limb-girdle muscular dystrophy. We describe an unusual presentation, with rhabdomyolysis, of limb-girdle muscular dystrophy (LGMD). We evaluated a patient for progressive muscle weakness and tenderness, with myoglobinuria one week after initial presentation. Immunohistochemistry on muscle tissue revealed absent staining for gamma-sarcoglycan, confirmed by detection of a homozygous mutation in the gamma-sarcoglycan gene. Myoglobinuria has been previously reported only twice in LGMD. It is therefore important to recognize that myoglobinuria may be a symptom of a muscular dystrophy, and muscle biopsy and immunostaining are important tools for diagnosis.

Original languageEnglish (US)
Pages (from-to)337-339
Number of pages3
JournalNeuromuscular Disorders
Volume20
Issue number5
DOIs
StatePublished - May 1 2010

Keywords

  • Gamma-sarcoglycanopathy
  • Metabolic myopathy
  • Muscular dystrophy
  • Myoglobinuria
  • Rhabdomyolysis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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