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Table 1 Demographics, clinical characteristics, neurophysiology, phenotype and missense mutation for the three families.

From: Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome

Family 1 2 3
Family member   Father Daughter  
Demographic     
Sex
Age at onset 2 70 29 56
Disease duration 13 3 25 10
Clinical characteristics     
Neurological Impairment Score (NIS)     
   cranial nerves 0 0 0 0
   Muscle weakness 24 26 15 4
   Reflexes 16 16 2 4
   Sensation 24 6 6 2
   Total NIS score 64 48 23 10
Charcot-Marie-Tooth disease neuropathy score (CMTNS)     
Sensory symptoms 3 0 3 3
Motor symptoms     
   Legs 4 1 1 1
   Arms 1 0 0 0
Pin sensibility 4 3 3 3
Vibration 4 4 3 -
Strength     
   Legs 1 3 1 4
   Arms 3 1 0 0
Ulnar/median CMAP 2 - 0 1
Ulnar/median SNAP 4 - 3 3
Total CMTNS score 26 12 14 15
Ataxia Marked Slight - -
Romberg Positive - Positive -
Pes cavus Present - Present Present
Kyphoscoliosis Marked Slight 0 0
Phenotype Déjérine-Sottas syndrome Charcot-Marie-Tooth type 2 Charcot-Marie-Tooth type 2 Charcot-Marie-Tooth type 2
Missense mutation 368G>A 103G>A 103G>A 103G>A
Amino acid change Gly123Asp Asp35Asn Asp35Asn Asp35Asn