Congenital RYR1-Associated Myopathies
DOI:
https://doi.org/10.15844/pedneurbriefs-27-7-2Keywords:
Muscle Ultrasound, Central Core Disease, Muscle BiopsyAbstract
Investigators from the Children’s Hospital of Philadelphia, NINDS, and other centers in the US and France, report a series of 11 patients with severe neonatal RYR1-associated myopathy confirmed by genetic testing.Published
2013-07-01
Issue
Section
Myopathies
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