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Table 1 Clinical summary

From: Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Patient Sex Age of onset Age at muscle biopsy Symptoms (when examined) CK EMG Other
FF1        
 III-6 M 50 74 ll severe, ul mild 400 na  
 III-8 F 60 69 ll mild, ul mild 187 myopathic  
 III-12 F 35 47, 63, 72 ll severe, ul moderate 338 myopathic  
 IV-7 M 34 46, 48 ll moderate, ul moderate 789 myopathic dysphagia
 V-8 M 30 38 ll mild, no ul 820 myopathic  
 IV-9 F 30 38, 42 ll moderate, ul mild 375 myopathic  
 IV-10 M 20 44, 49 ll moderate, ul mild 175 myopathic  
FF2        
 III-4 F 50 63 ll mild, no ul 520 myopathic  
FF3        
 IV-1 M 38 49, 51 ll, severe, ul moderate 600 myopathic dysarthria, ll pain
FF4        
 III-2 F 40 62 ll mild, slow course “normal” myopathic  
 IV-1 M 28 31 ll mild, ul mild 1900 myopathic  
FF5        
 IV-1 M 30 47 ll severe, ul mild “normal” myopathic dysphagia
FF6        
 IV-1 M 40 51 ll, severe, ul moderate 800 myopathic  
  1. ll, lower limb; ul, upper limb. Clinical findings at the time of clinical examination, within one year of muscle biopsy sample time (or latest biopsy, if many). Creatine kinase (CK) normal upper limits 400 for men, 210 for women