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Published 2013 | Version v1.0.0
Journal Article Open

Congenital RYR1-Associated Myopathies

Abstract

Investigators from the Childrens 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.

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Created:
March 30, 2023
Modified:
March 30, 2023