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.
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 |