Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population

Table 2 Genotype-phenotype correlation analysis

Genotype	N	Age at onset	Sex, F/M	Age at onset of female	Age at onset of male	p value
E/E	74	28.22 ± 7.71	46/29	29.80 ± 6.29	25.72 ± 9.06	0.025
E/K	44	29.32 ± 8.99	31/13	27.81 ± 9.48	32.92 ± 6.73	0.085
E/N	32	30.66 ± 9.00	17/15	29.29 ± 6.06	32.20 ± 11.52	0.371
E/UF	4	17.50 ± 6.46	2/2	17.50 ± 6.37	17.50 ± 9.19	1.000
K/K	30	26.10 ± 4.79	18/12	25.44 ± 5.04	27.08 ± 4.40	0.367
K/N	5	24.40 ± 2.61	0/5	-	24.40 ± 2.61	-
K/UF	3	22.67 ± 3.06	1/2	-	23.00 ± 4.24	-
N/N	3	25.33 ± 2.52	0/3	-	25.33 ± 2.52	-
UF/UF	1	-	1/0	-	-	-

N, number of affected patients; F, female; M, male; E, epimerase domain; N, null, includes frameshifts, nonsense mutations, canonical ± 1 or 2 splice sites, multiexon deletions, mobile element insertion, or initiation codon; K, kinase domain; UF, unknown function region. p value refers to the difference between age at disease onset in female and male patients using the unpaired t test

ISSN: 1750-1172