title: GNE myopathy: a personal trip from bedside observation to therapeutic trials.
abstract: The trip is not over yet as definite therapy for GNE myopathy is not yet available. Also the exact mechanisms by which GNE defects lead to isolated muscle disease in humans are not fully recognized. But in the Gaetano Conte lecture of 2013 I have tried to describe how much a progress was made in several research laboratories and clinical institutes in the investigation of this unique myopathy.
authors.affiliation: Kanrich Professor of Neuromuscular Disease, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Zohar
authors.initials: Z
authors.lastname: Argov
mesh_terms: D049310:Distal Myopathies / Q000209:etiology / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D009097:Multienzyme Complexes / Q000235:genetics
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase