Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

Loren Pena, Katherine Kim, Joel Charrow*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


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
Issue number5
StatePublished - May 2010


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

ASJC Scopus subject areas

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


Dive into the research topics of 'Episodic myoglobinuria in a primary gamma-sarcoglycanopathy'. Together they form a unique fingerprint.

Cite this