Table 3.

Genotype–phenotype correlation analysis. Baseline demographics and outcome factors analysed by the mutation location (epimerase, kinase or both). Also 4 most common mutations are included in the analysis.

	Fixed factors, cohort description			Outcome factors
	Genotype	Age at baseline, mean (95% CI)	Sex, F%/M%	% of ambulant patients	Mean age of onset (95% CI)	Mean GNEM-FAS score, total % (95% CI)*	Mean age of first use of wheelchair
By domain	(A) Epimerase [exon 1–7], n = 18	40.2 (35.3–45.2)	72/28	82.3	29.2 (24.8–33.5)	51.1 (37.0–65.2)	44.5
	(B) One epimerase, one kinase, n = 30	39.8 (36.1–43.8)	50/50	70.0	26.2 (23.5–28.9)	52.1 (41.7–62.5)	38.6
	(C) Kinase [exon 8–12], n = 41	40.4 (36.7–44.1)	46/54	82.1	29.7 (27.7–31.7)	62.9 (55.6–70.2)	41.5
By mutation	p.Met743Thr n = 20 (homozygous- 85%)	40.4 (35.3–45.5)	40/60	84.2	27.8 (25.0–30.7)	61.4 (50.8–72.0)	43.2
	p.Ala662Val, n = 15 (homozygous- 33%)	48.1 (42.3–53.9)	67/33	60.0	30.8 (26.5–35.1)	41.8‡ (27.7–55.9)	43.1
	p.Val727Met, n = 12 (homozygous- 8%)	39.2 (33.2–45.1)	42/58	100	30.8 (26.9–34.6)	77.8 (69.0–86.6)	46
	p.Arg277Trp, n = 11 (homozygous- 64%)	39.3 (33.0–45.6)	73/27	80.0	29.2 (24.5–34.0)	53.0 (33.1–72.3)	42
	Other (not carrying mutations above), n = 23	35.3† (30.1–40.0)	48/52	82.6	25.7 (22.3–29.4)	56.3 (44.1–68.5)	33

^*Three domains of FAS questionnaire. Score calculated as % normal functionality (100%), which means no limitations in the mobility, upper extremity and self-care function.

^†Age at baseline statistically different between p.Ala662Val and “other” group, p = 0.003.

^‡ANOVA test of GNEM-FAS score between p.Ala662Val and p.Val727Met group p = 0.002.