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Table 4 Electroneurographical findings in affected, gray shading indicate men. Sensory nerve action potential (SNAP) (μV), compound muscle action potential (CMAP) (mV)

From: Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

Family member

Sex

Age at onset (yr)

Age at examination (yr)

Sensory Sural nerve

Motor Peroneal nerve

Motor Tibial nerve

Sensory Median nerve

Motor Median nerve

EMG Chronic denervation

    

SNAP

CV

CMAP

CV

CMAP

CV

SNAP

CV

CMAP/

CV

 

Family 1

   

R

L

R

L

R

L

R

L

R

L

R

L

R

L

R

L

R

L

R

L

 

III-7

♀

6

68

-

-

-

-

3.3

1.7

43.8

37.0

-

-

-

-

        

Present

IV-4

♂

3

44

-

-

-

-

-

-

-

-

-

-

-

-

      

33.5

36.6

Present

IV-8

♀

10

46

-

-

-

-

1

0.2

32.8

25.4

0.8

1.7

30.2

31.1

-

-

-

-

1.0

0.3

36.8

34.6

Present

IV-12

♀

6

36

-

0.6

-

30.4

-

-

-

-

1.2

1.3

25.2

25.0

        

Present

IV-15

♀

22

29

-

-

-

-

5.5

4.0

39.5

41.9

4.0

5.8

44.1

46.9

        

Slightly

V-4

♀

7

20

-

 

-

29.3

-

-

31.8

31.7

-

-

29.7

32.5

        

Present

Family 2

                        

III-2

♀

6

44

-

-

  

1.5

 

29.0

 

0.5

 

30.0

     

2.5

 

44.0

 

Present

IV-1

♂

4

37

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

0.3

0.2

25.8

22.7

Present

IV-3

♂

11

18

      

31.0

     

-

 

-

   

30.0*

 

Present

V-1

♀

 

8

3.8

 

57,8

 

0.8

1.3

45.9

45.8

            

Not present

V-2

♀

1

7

1.0

 

48.3

 

2.0

1.3

48.8

46.7

            

Not present

  1. - not recordable
  2. * ulnar nerve
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BMC Neurology

ISSN: 1471-2377

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