A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia. Myoglobinuria was always triggered by febrile illn...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2014-11-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC4230727?pdf=render |