RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference44 articles.
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2. A mutation in the human ryanodine receptor gene associated with central core disease;Zhang;Nat Genet,1993
3. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene;Jungbluth;Neurology,2005
4. RYR1 mutations are a common cause of congenital myopathies with central nuclei;Wilmshurst;Ann Neurol,2010
5. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion;Clarke;Hum Mutat,2010
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