Pediatric Neurology Briefs (Jul 2013)

Congenital RYR1-Associated Myopathies

  • J Gordon Millichap

DOI
https://doi.org/10.15844/pedneurbriefs-27-7-2
Journal volume & issue
Vol. 27, no. 7
pp. 50 – 50

Abstract

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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.

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