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Table 3 Mutations and presence of LGE and LVEF

From: Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers

Patient Age (ys) Mutation LGE LGE location LGE distribution # segments LVEF (%)
1 42 del. exon 12–29 + inf, lat end, mid 3 54
2 40 del. 48–50 - - - 0 58
3 38 point mutation intron 40 - - - 0 72
4 40 exon 48 (somatic mosaic) - - - 0 70
5 24 n. k. + inf, lat mid 6 42
6 26 dupl. exon 3–34 + inf, lat mid 2 58
7 62 n. k. + inf, lat mid 4 64
8 38 nonsense mutation exon 12 + lat mid 1 65
9 55 n. k. + ant, lat mid 6 57
10 39 n. k. + lat epi 2 53
11 41 n. k. - - - 0 61
12 29 dupl. exon 1–2 and 39–34 - - - 0 66
13 59 dupl. exon 1–2 and 39–34 - - - 0 74
14 22 dupl. exon 1–2 and 39–34 - - - 0 59
15 40 dupl. exon 1–2 and 39–34 - - - 0 61
16 34 del. exon 23 - - - 0 57
17 41 point mutation exon 24 + lat mid, epi 3 61
18 29 del. exon 44 - - - 0 66
19 53 del. exon 1–11 - - - 0 64
20 47 del. exon 43 + ant, lat mid 2 56
  1. ant anterior, del. deletion, dupl. duplication, end subendocardial, epi subepicardial, inf inferior, lat lateral, LGE late gadolinium enhancement, LVEF left ventricular ejection fraction (measured by CMR), mid midmyocardial, n. k. not known, # segments number of left ventricular segments involved