Article
Rhabdomyolysis: a genetic perspective.
Orphanet journal of rare diseases - 2 May 2015
Scalco Renata Siciliani, Gardiner Alice R, Pitceathly Robert Ds, Zanoteli Edmar, Becker Jefferson, Holton Janice L, Houlden Henry, Jungbluth Heinz, Quinlivan Ros
Abstract excerpt
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes have been reported including drug abuse and infections. Underlying genetic disorders are also a cause of RM and can often pose a diagnostic...
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