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

OBJECTIVE: To report a series of 11 patients on the severe end of the spectrum of ryanodine receptor 1 (RYR1) gene–related myopathy, in order to expand the clinical, histologic, and genetic heterogeneity associated with this group of patients. METHODS: Eleven patients evaluated in the neonatal perio...

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Hauptverfasser: Bharucha-Goebel, Diana Xerxes, Santi, Mariarita, Medne, Līvija, Zukosky, Kristin, Dastgir, Jahannaz, Shieh, Perry B., Winder, Thomas, Tennekoon, Gihan, Finkel, Richard S., Dowling, James J., Monnier, Nicole, Bönnemann, Carsten G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3662324/
https://ncbi.nlm.nih.gov/pubmed/23553484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182900380
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