Table 2.

Growth Parameters of Individuals with TOP3A and RMI1 Mutations

Individual	Mutated Gene	Birth							Postnatal
		Gestational Age (Weeks)	Weight		OFC		Length		Age at Exam	Weight		OFC		Height
			kg	Z Score (SD)a	cm	Z Score (SD)	cm	Z Score (SD)		kg	Z Score (SD)a	cm	Z Score (SD)	cm	Z Score (SD)
P1	TOP3A	37	1.35	−3.9	27.5	−4.2	38	−5.4	5 months	4.9	−2.7	36	−5.7	54.8	−4.4
P2	TOP3A	37	1.9	−2.3	NA	NA	NA	NA	3 years	9.5	−3.7	47.5	−2.3	84.5	−2.8
P3	TOP3A	37	2.2	−1.6	NA	NA	NA	NA	8 years	16.5	−3.3	49.5	−2.9	112.5	−2.7
P4	TOP3A	40	2.2	−2.9	NA	NA	NA	NA	10 years	18.1	−4.6	49.5	−3.1	113	−4.1
P5	TOP3A	35	1.91	−1.3	31.8	−0.2	43	−1.8	15 years	20	−6.4	51	−3.1	138	−3.7
P6	TOP3A	NA	2	NA	NA	NA	NA	NA	19 months	5.17	−7.5	44.3	−3.0	64.3	−5.8
P7	TOP3A	38	1.90	−2.8	30.0	−2.7	41	−4.1	3 years, 3 months	7.21	−7.0	44.2	−5.3	78.7	−4.7
P8	TOP3A	34	1.41	−2.5	28.5	−2.2	42	−2.1	7 yearsb	10	−2.9	45.8	−5.0	98.1	−4.5
P9	TOP3A	40	2	−3.4	NA	NA	NA	NA	11 years	21.6	−3.5	47.5	−4.5	125.6	−2.7
P10	TOP3A	36	1.6	−2.7	NA	NA	NA	NA	4 years, 7 months	9	−6.1	45.5	−5.0	91	−3.3
P11	RMI1	34	1.59	−1.7	NA	NA	NA	NA	7 years	14	−3.8	46.5	−5	100	−4
P12	RMI1	38	1.80	−3.1	NA	NA	NA	NA	13 years	39	−0.9	48	−5	135	−2.9
MC1c	TOP3A	NA	NA	NA	NA	NA	NA	NA	adult	NA	NA	NA	NA	163	NA

Z scores are the standard deviation from population mean for age and sex. The following abbreviation is used: NA, not available.

^aAdjusted for gestation.

^bGrowth-hormone treatment from 4 years, 3 months of age to 5 years, 11 months of age showed no response.

^cPreviously reported individual with adult-onset mitochondrial disease (ataxia and progressive external ophthalmoplegia).³²