Referenced in: none

Automatically associated channels: Kir6.2

Title: De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

Authors: Aurelio Hernandez-Lain, Isabelle Husson, Nicole Monnier, Caroline Farnoux, Guy Brochier, Emmanuelle Lacène, Maud Beuvin, Mait Viou, Linda Manéré, Kristl G Claeys, Michel Fardeau, Joël Lunardi, Thomas Voit, Norma Beatriz Romero

Journal, date & volume: Eur J Med Genet, 2011 Jan-Feb , 54, 29-33

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20888934

Abstract