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J Med Genet 40:e85 doi:10.1136/jmg.40.7.e85
  • Online mutation report

Frequency of rare mitochondrial DNA mutations in patients with suspected Leber’s hereditary optic neuropathy

Table 2

The relative frequency of mtDNA mutations causing LHON

Pedigrees (n (%))
Pathogenic mtDNA mutation North east of England Mackey et al3
There was no significant difference between the frequency of the different groups in the north east of England and those of Mackey et al32=4.67, p>0.25).
G11778A 9 (56) 110 (69)
G3460A 5 (31) 21 (13)
T14484C 1 (6) 23 (14)
All 3 “primary” 15 (94) 154 (97)
Non-primary 1 (6) 5 (3)
Total 16 159

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