Reference | Age/sex | Ethnicity or origin of study | Hepatomegaly | Liver biopsy | Cardio myopathy | Myopathy | CK | Hypertriglyceridemia | AST, ALT | Hypoglycemia | Sub type | AGL mutation |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Crushell et al. 2010 [24] | 18Y | Irish | + | N/A | - | - | - | N/A | + | + | IIIb | c.[1879G>T]+[4197delA] exon 15/exon 32 |
18Y | + | N/A | - | - | - | N/A | + | + | IIIb | c.[18_19delGA]+[3682C>T] exon 3/exon 28 | ||
20Y | + | N/A | - | - | - | N/A | + | + | IIIb | c.[18_19delGA]+[3980G>A] exon 3/exon 31 | ||
17Y | + | N/A | - | - | - | N/A | + | + | IIIb | c.[18_19delGA]+[3980G>A] exon 3/exon 31 | ||
Lee et al. 2011 [25] | 16Y/F | Nicaraguan | + | + | - | - | - | N/A | + | + | IIIb | 17delAG/ Hom |
Mili et al. 2012 [28] | 2Y/M | Tunisian | + | N/A | N/A | - | - | N/A | + | + | IIIb | IVS32–12A>G/ Hom Intron 32 |
Minen et al. 2012 [31] | 3Y/M | Italian | + | + | - | - | - | + | + | + | N/A | c.664+3A>G/ Hom Intron 6 |
Ben et al. 2013 [32] | 11M/M/ Con | Tunisian | + | + | + | - | - | + | + | + | N/A | c.2682-8A>G/ Hom Intron 21 |
14D/F/ Con | + | + | - | - | - | + | + | + | N/A | |||
Sentner et al. 2013 [26] | 3Y/M | Caucasian | + | + | - | - | - | + | + | + | N/A | c.[655A>G]+ [4529dupA] exon 6/exon 35 |
30Y/M | + | + | - | - | - | + | + | + | IIIb | c.16C>T/ Hom exon 3 | ||
41Y/F | + | + | - | - | - | + | + | + | IIIb | c.1027C>T+ IVS32–12A>G exon 9/Intron32 | ||
3Y/M/ Con | + | + | - | - | - | + | + | + | N/A | c.3911delA/ Hom exon 30 | ||
1Y/M/ Con | + | + | - | - | + | + | + | + | N/A | |||
Ko et al. 2014 [30] | 5Y/F | Korean | + | + | - | - | - | - | + | N/A | N/A | p.[R285X]+[R675W] |
12Y/M | + | + | - | - | - | - | + | N/A | N/A | c.[1735+1G>T]+ [2591G>C] | ||
Basit et al. 2014 [29] | Con A 5Y/M 9Y/F 11Y/ F | Saudi | + | N/A | - | - | + | N/A | + | + | IIIb | VS32-12A>G/ Hom Intron 32 |
+ | N/A | - | - | + | - | + | + | IIIb | ||||
+ | N/A | - | - | N/A | N/A | + | + | IIIb | ||||
Con B 12Y/M 8Y/M | Saudi | + | N/A | - | - | N/A | N/A | + | - | IIIb | No detect any pathogenic variant | |
+ | N/A | - | - | + | N/A | + | - | IIIb | ||||
Con C 2Y/F | Saudi | + | N/A | - | - | - | N/A | + | - | IIIb | VS32-12A>G/ Hom Intron 32 | |
Con D 36Y/ F 42Y/ F 44Y/M 44Y/ F 46Y/ F 50Y/M 11Y/ F | Saudi | + | N/A | - | - | N/A | N/A | N/A | + | IIIb | VS32-12A>G/ Hom Intron 32 | |
+ | N/A | - | - | + | N/A | + | + | IIIb | ||||
+ | N/A | - | - | N/A | N/A | N/A | + | IIIb | ||||
+ | N/A | - | - | N/A | N/A | N/A | + | IIIb | ||||
+ | N/A | - | - | N/A | N/A | N/A | + | IIIb | ||||
+ | N/A | - | - | + | N/A | + | + | IIIb | ||||
+ | N/A | - | - | + | N/A | + | + | IIIb | ||||
Con E 4Y/ F 11Y /F | Saudi | + | N/A | - | - | N/A | N/A | N/A | + | IIIb | VS32-12A>G/ Hom Intron 32 | |
+ | N/A | - | - | + | N/A | + | + | IIIb | ||||
Oterdoom et al. 2015 [27] | 63Y/M | Dutch | + | + | - | - | - | - | + | - | IIIb | c.[16C>T]+[1013_1014dupAT] |
Perveen et al. 2020 [5] | 3Y/M | Indian | + | N/A | N/A | N/A | - | - | + | - | N/A | c.1880A>G/ Hom |
3Y/F | + | + | N/A | N/A | - | + | + | - | N/A | |||
4Y/F | + | N/A | N/A | N/A | - | - | + | + | N/A | c.4331A>G/ Het | ||
3Y/M | + | + | N/A | N/A | - | - | + | + | N/A | c.3069G>A/ COH | ||
6Y/F | + | + | N/A | N/A | - | - | + | - | N/A | c.4353G>T/ COH | ||
2.5Y/F | + | + | N/A | N/A | - | + | + | + | N/A | c.3083+1G>A/Het | ||
3.5Y/M | + | + | N/A | N/A | - | + | + | - | N/A | c.2362-2392dup31/ COH | ||
4Y/M | + | + | N/A | N/A | - | + | + | + | N/A | c.[4334A>G]+[3444C>G] | ||
3Y/M | + | + | N/A | N/A | - | + | + | - | N/A | c.[2362-2392dup31]+[4334A>G] |