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Table 1

From: Characterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations

  Patient 1 Patient 2 Patient 3 Patient 4 Reference range
Age/years 57 58 38 25  
Gender Female Female Male Male  
Mutation DPAGT1 DPAGT1 GFPT1 GFPT1  
Nucleotide change c.349G > A
c.699dup
c.478G > A
c.574G > A
c.44C > T
c.1486C > T
c.1154G > A
c.1301G > A
 
Effect on protein p.Val117Ile
p.Thr234Hisfs*116
p.Gly160Ser
p.Gly192Ser
p.Thr15Met
p.Arg496Trp
p.Arg385His
p.Arg434His
 
LVEDV/ml 104 142 124 144 102-218 ml (male)
83-187 (female
LVESV/ml 29 53 41 46 18-82 ml (male)
18-66 ml (female)
LVEF 72 63 67 68 57-81%
(male and female)
RVEF 75 64 66 70 47-71% (male)
53-73% (female)
LV mass/g 120 115 134 124 81-165 g (male)
42-150 g (female)
LGE regions Anterior septum and inferior LV/RV junction Basal inferolateral wall Basal inferolateral wall Inferior and inferolateral wall  
LGE > 5SD/% 1.6 2.3 5.1 3.9  
Stress perfusion CMR (visual assessment) Normal Not performed Normal Normal  
PCr/ATP ratio 1.19 1.01 2.23 2.25  
Diastolic function Grade 1 dysfunction Grade 2 dysfunction Grade 1 dysfunction Normal  
  1. Baseline characteristics and CMR and echo indices including left ventricular end diastolic volume (LVEDV), left ventricular end systolic volume (LVESV), left ventricular ejection fraction (LVEF), right ventricular ejection fraction (RVEF), late gadolinium enhancement (LGE) and phosphocreatine to adenosine triphosphate ratio (PCrR/ATP).