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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