title: Episodic myoglobinuria in a primary gamma-sarcoglycanopathy.
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.
authors.affiliation: Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
authors.forename: Loren
authors.initials: L
authors.lastname: Pena
authors.forename: Katherine
authors.initials: K
authors.lastname: Kim
authors.forename: Joel
authors.initials: J
authors.lastname: Charrow
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications* / Q000378:metabolism* / Q000473:pathology; D009212:Myoglobinuria / Q000209:etiology*; D049031:Sarcoglycans / Q000235:genetics / Q000378:metabolism*
chemical_list: D049031:Sarcoglycans