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NehaAr/GNE-Myopathy

 
 

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GNE-Myopathy

A Project started for a Noble Cause

GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles

Worldwide prevalence is estimated at 1/1,000,000, however it is more frequent in populations of Persian Jewish and Japanese ethnicity.

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