TableĀ 2

Summary table of clinical features in patients with genetically confirmed GNE-myopathy

Clinical featureNumber of affected patients
Ambulant21/26
Quadriceps spared at follow-up17/26
Bilateral foot drop at onset14/26
Unilateral foot drop at onset9/26
Bilateral scapular winging8/26
Asymmetrical scapular winging3/26
Facial weakness5/26
Finger flexion weakness5/26
Finger extension weakness3/26
Rimmed vacuoles4/19
  • Frequency of clinical signs and symptoms relative to the total number of patients assessed.