Table 2. Point mutation FA patients.

Patient	Sex	Mutation	GAA repeats	Age	Age at onset	Disease duration	Frataxin protein pg/µg total protein	Frataxin protein %	Frataxin mRNA %
1	M	p.I154F	959	42	6	36	3.60	9.3	33
2	M	p.I154F	921	44	13	31	5.20	13.5	48
3	M	c.482+3delA	731	46	9	37	10.34	26.8	52
4	F	p.R165P	988	34	4	30	21.10	54.7	67
5	F	p.R165P	926	43	10	33	23.40	60.6	75

Demographics, neurological data, frataxin protein and FXN mRNA levels in pFA. Frataxin protein % and FXN mRNA levels % are expressed as relative to the control group.