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 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Sum cranial nerves | 0 | 0,5 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Muscle weakness | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
   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 |