Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Affiliation

• ¹ MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.