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Table 2 Neurophysiology in affected carrying the AARS1 variant

From: Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

  Sex Age (years) at R/L Motor nerves Sensory nerves EMG chronic denervation
Onset Exami-nation Median Ulnar Peroneal Tibial Median Ulnar Sural
CMAP CV CMAP CV CMAP CV CMAP CV SNAP CV SNAP CV SNAP CV
Normal values →     4.0 49.0 4.0 49.0 3.0 41.0 3.0 41.0 12.0 46.0 17.0 47.0 17.0 44.0
Family 1
  II-2 M 18 57 R - - - - A A 0.4 A - - - - A A Present
     L 1.6 37.5 4.9 50.2 A A 0.9 A 1.9 50.0 1.2 45.8 1.8 38.1 Present
    59 L 0.6 40.2 5.6 47.4 A A A A - - - - - - Present
    61 L 1.0 38.1 5.8 51.1 A A A A - - - - - - -
    63 L 1.0 35.8 6.8 51.1 A A A A - - - - - - Present
    64 L 0.4 50.0 5.9 44.1 A A A A - - - - - - Present
    65 L 0.6 43.8 3.7 45.3 - - - - - - - - - - Present
    66 R 0.2 46.2 6.3 41.7 - - - - - - - - - - -
     L 0.3 40.7 6.7 46.1 - - - - - - - - - - -
  II-3 F 7 58 R - - - - 0.3 24.1 0.2 A - - - - 3 36.1 Present
     L - - - - 1.5 28.3 0.2 A - - - - 6 38.1 -
    63 R - - - - A A 0.2 29.6 - - - - 3.3 46.2 Present
     L - - - - 0.1 37.1 0.3 39.8 - - - - 2.9 50.0 Present
    67 R 5.0 41.7 6.5 52.3 A A 0.2 A 2.7 - 1.0 - 2.6 43.1  
     L 0.8 39.0 4.8 45.8 A A 0.6 A 2.5 - 1.7 - 2.1 52.0 Present
  II-7 M 45 60 R 7.8 47.2 - - A A 5.4 A 17 44.2 - - - - Present
     L - - - - A A A A - - - - A A Present
  III-1 M 35 40 R N N A A A A N N - - Present
     L - - - - A A A A - - - - -
  III-2 M 25 37 R N 40.0 N N 25.0 31.0 N N - - 3.8 37.0 -
     L - - - - 29.0 31.0 - - - - - - Present
  III-5 F 32 32 R 3.8 45.5 - - 1 34.6 2.5 34.2 8.5 50 5.6 51.4 3.8 45.5 Present
     L - - - - 0.4 33.7 4.9 32.6      2.4 49.1 -
    42 R 3.6 41.1 4.8 46.1 1.5 34.5 3.7 36.4 2.6 46.8 2.4 58.1 7.3 51.7 Present
Family 2
  II-1 M 22 38 R - - - - - - - - - - - - -
     L - - - - - - - - - - - - - -
    46 R - - - - A A - - -
     L N - - - - - - - -
  II-2 M - 67 R 2.2 34.3 9.2 49.5 A A A A 5.3 36.4 6.6 40.8 A A Present
     L - - - - A A A A      A A Present
    69 R 0.4 33.0 - - - - - - A A   - - -
     L 1.3 31.0 3.4 - - - - - A A 1.9 41.6 - - -
  III-2 F 42 44 R 8.0 52.2 7.9 - 2.5 33.3 5.2 35.5 70.0 - 60.0 - 6.2 40.4 Normala
     L 7.5 50.0 10.6 - 0.9 31.6 3.0 - 57.0 - 64.0 - 6.1 50.0 Normala
  IV-1 M 11 12 R 6.4 44.2 8.2 - 1.7 35.4 3.9 39.2 2.4 - 3.9 - 2.8 45.4 Normal
     L - - - - 1.3 32.9 - - - - - - 3.0 45.9 Normal
  1. Abbreviations: Bold numbers/symbols Abnormal values, CMAP Compound motor action potential (mV), F Female, M Male, SNAP Sensory nerve action potential (µV), CV Conduction velocity (m/s), A Absent evoked response,—= not measured, R/L Right/left, N Normal, exact value missing, ↓ Reduced value, exact value missing;
  2. aEMG performed only in tibial anterior muscle