GNE myopathy: a personal trip from bedside observation to therapeutic trials

Zohar Argov

Kanrich Professor of Neuromuscular Disease, Hadassah-Hebrew University Medical Center, Jerusalem, Israel Based on the Gaetano Conte prize lecture delivered at the 11th meeting of the Mediterranean Society meeting (Athens 2013)

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.

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