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Table 2 Reported pathogenic mtDNA mutations associated with neuromuscular disease involving the ND6 gene

From: Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report

Nucleotide position and changes

Amino acid changes in ND6

Phenotype

References

14258G → A

P139L

LHON

20

14279G → A

S132L

LHON

21

14325 T → C

N117D

LHON

22

14453G → A

A74V

MELAS

8

14459G → A

A72V

LHON /dystonia

23

14482C → A

M64I

LHON

24

14482C → G

M64I

LHON

25

14484 T → C

M64V

LHON

26

14487 T → C

M63V

Leigh disease

27

14495A → G

L60S

LHON

28

14498 T → C

Y59C

LHON

29

14502 T → C

I58V

LHON

30

14568C → T

G36S

LHON

31

14582A → G

V31A

LHON

20

14596A → T

I26M

LHON /dystonia

32

14600G → A

P25L

Leigh disease

33

  1. LHON Leber’s hereditary optic neuropathy, MELAS mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, mtDNA mitochondrial DNA