Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

作者：Pena Loren; Kim Katherine; Charrow Joel^*

来源：Neuromuscular Disorders, 2010, 20(5): 337-339.

DOI：10.1016/j.nmd.2010.02.015

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

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.

• 出版日期2010-5
• 单位西北大学