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Table 3 Neuropathy Impairment Score (NIS) of the Charcot-Marie-Tooth patients in the two families.

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

 

Family 1

Family 2

Family member

III-7

IV-4

IV-8

IV-12

IV-15

V-4

III-2

IV-1

IV-3

V-2

Sex

♀

♂

♀

♀

♀

♀

♀

♂

♂

♀

Age at onset

6

3

10

6

22

7

6

4

11

1

Disease duration

62

41

36

30

7

13

51

33

25

6

NIS

          

Sum cranial nerves

0

0,5

0

0

0

0

0

0

0

0

Muscle weakness

          

   MRC-sumscore 1

1

5

2

2

0

1

3

5

8

0

   Sum UE 2

3

10

4

3

0

2

4

16

10

0

   Sum LE 3

5

15

6

7,5

1

4

3

17

18

0

Sum muscle weakness4

8

25

10

10,5

1

6

7

33

28

0

Sum reflex deficit

2

10

4

16

4

6

2

16

12

6

Sum sensory deficit

4

14

6

8

4

4

15

14

10

0

Total sum NIS5

14

49,5

20

34,5

9

16

24

63

50

6

  1. 1MRC sum score; 6 muscles on both sides, 3 muscle upper extremity (UE) and 3 muscles lower extremity (LE) respectively.
  2. 2Sum UE 9 muscles R and L.
  3. 3Sum LE 8 muscles R and L.
  4. 4Sum muscle weakness 19 muscles.
  5. 5Total sum NIS: The score consists of Sum cranial nerves, Sum muscle weakness, Sum reflex deficit and Sum sensory deficit
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BMC Neurology

ISSN: 1471-2377

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