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Table 1 Gender, age at onset, initial symptoms of Charcot-Marie-Tooth disease, phenotype and point mutations in the eight unrelated Norwegian families with mutation in the MFN2 gene.

From: MFN2point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

Family no. Family member Gender Age at onset
(yrs)
Initial symptoms Phenotype Point
mutation
Exon Amino acid
Change
1 II-2 4 Weakness in legs CMT1 c.280C>T 4 Arg94Trp
  III-1 4 Weakness in legs and pes cavus     
2 II-1 4 Stumble and dorsal motion weakness in toes CMT2 c.281G>A 4 Arg94Gln
3 II-1 2 Foot deformity and stumbled CMT1 c.1403G>A 14 Arg468His
4 II-1 63 Weakness in the right foot, and difficulties walking dHMN c.1709A>G 15 Asn570Ser
5 III-9 10 Weakness in legs and pes cavus CMT2 c.2113G>A 18 Val705Ile
6 II-3 47 Paresthesia in feet CMT2 c.2113G>A 18 Val705Ile
7 III-3 44 Muscular pain during exercise in left leg CMT2 c.2119C>T 18 Arg707Trp
8 III-2 23 Recurrent ankle sprains, weakness and reduced balance Intermediate CMT c.2146G>A 18 Ala716Thr
  III-4 50 Paresthesia in foot     
  1. Relatives of probands and novel point mutations are shown in italics.