. 2020 Jun 17;20:247. doi: 10.1186/s12883-020-01818-w

Table 3.

Comparison of the clinical features of MELAS with 14453G → A mutation

Author (year)	Age, y /Sex	Mutation	Locus	Mutation rate Muscle /Blood	Phenotype	Clinical features	mRS Peak /Current	FU (Months)
Ravn (2001)	7/F	5628 T → C 13535A → C 14453G → A	MTTA ND5 ND6	NR NR 82%/78%	MELAS	Myoclonic epilepsy, partial seizure, ataxia with dystonia	5/NR	NR
Present case	74/M	189A → G 14453G → A 16129G → A	D-loop ND6 D-loop	45%/NE 53%/NE 81%/NE	MELAS	Cognitive impairment, psychosis, left hemiparesis	5/2	8

Author
(year)

Age, y /Sex

Mutation

Locus

Mutation rate
Muscle /Blood

Phenotype

Clinical features

mRS
Peak /Current

FU
(Months)

Ravn (2001)

7/F

5628 T → C

13535A → C

14453G → A

MTTA

ND5

ND6

82%/78%

MELAS

Myoclonic epilepsy,

partial seizure,

ataxia with dystonia

5/NR

Present case

74/M

189A → G

14453G → A

16129G → A

D-loop

ND6

D-loop

45%/NE

53%/NE

81%/NE

MELAS

Cognitive impairment, psychosis, left hemiparesis

5/2

F female, FU following up period, MELAS mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, M male, mRS modified Rankin Scale, NE not examined, NR not reported, y years