Episodic myoglobinuria in a primary gamma-sarcoglycanopathy.


Journal Article

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.

Full Text

Cited Authors

  • Pena, L; Kim, K; Charrow, J

Published Date

  • May 2010

Published In

Volume / Issue

  • 20 / 5

Start / End Page

  • 337 - 339

PubMed ID

  • 20356742

Pubmed Central ID

  • 20356742

Electronic International Standard Serial Number (EISSN)

  • 1873-2364

Digital Object Identifier (DOI)

  • 10.1016/j.nmd.2010.02.015


  • eng

Conference Location

  • England