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Table 1 Mitochondrial genetic profile of the LHON fibroblasts

From: Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

PATIENTS

Age (years)

Sex

mtDNA mutation

Heteroplasmy level

Haplogroup

1

22

M

m.3460G > A

100%

J

2

30

M

m.11778G > A

74%

V

3a

43

F

m.11778G > A

100%

U

4

20

M

m.11778G > A

> 90%

K

5

47

M

m.11778G > A

100%

H

6

32

M

m.11778G > A

100%

V

7

44

M

m.11778G > A

81%

J

8

52

M

m.11778G > A

100%

H

9

43

M

m.14484T > C

100%

H

  1. aAlthough Patient 3 had a typical LHON clinical presentation, she was also known to be carrying an OPA1 gene mutation (p.Ile382Met). However, the pathogenicity of this mutation has not been fully demonstrated and its contribution to the clinical expression of LHON in this patient is unknown.