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Correlating Testing for Rare Genetic Variants with a Broad Clinicopathologic Spectrum of Congenital Myopathies

Author:Jayaraman, Divya   Genetti, Casie   Aykanat, Asli   Win, Wathone   Valivullah, Zaheer   O'Heir, Emily   Darras, Basil   Laine, Regina   O'Donnell-Luria, Anne   Beggs, Alan   

Session Name:N4: Neuroscience in the Clinic: Bridging Genetics to the Clinic in Neuromuscular Disease  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:N4.003  

Author Institution:Boston Children’s Hospital, Boston, MA  Broad Institute of MIT and Harvard, Boston, MA  Boston Children's Hospital, Boston, MA  Boston Children’s Hospital/Broad Institute of Harvard and MIT, Boston, MA  Boston Children's Hospital/Harvard Medical School, Boston, MA