Publications:

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Neurology

Bharucha-Goebel, Diana Xerxes DX; Santi, Mariarita M; Medne, Livija L; Zukosky, Kristen K; Zukosky, Kristin K; Dastgir, Jahannaz J; Shieh, Perry B PB; Winder, Thomas T; Tennekoon, Gihan G; Finkel, Richard S RS; Dowling, James J JJ; Monnier, Nicole N; Bönnemann, Carsten G CG

Publication Date: 2013-04-23

Variant appearance in text: RYR1: Leu574Val

PubMed Link: 23553484

Variant Present in the following documents:

• Main text

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