Table 1.

Cases with m.3243A>T mutation

Reference	Case	Sex	Onset	Phenotype	Family history	Presentation	Images	Prognosis	Mutation rate
Shaag et al. 5	1	F	6 y	MELAS	N.A.	Encephalopathy Muscle weakness Fatigue	CT: ventriculomegaly	10 y vegetative state	Muscle skin blood	81% 69% 14%
Longo et al.6	2	F	7 y	MELAS	N.A.	Stroke-like episodes Hearing loss Visual impairment Short stature Fatigue	MRI, MRA: partial atrophy, multi embolisms	9 y died	Muscle blood skin	50% 50% 50%
Alston et al.7	3	M	6 y	Hearing loss	None	Hearing loss Recurrent keratitis Short stature	CT: basal ganglia calcification	22 y normal IQ	Muscle urinary blood buccal	87% 88% 46% 16%
	4	F	8 y	CPEO	Mother and aunt had short stature	Visual impairment Muscle weakness Ophthalmoplegia Short stature	N.A.	N.A.	Blood	5–10%
Czell et al.8	5	M	29 y	Rhabdomy-olysis	Two cousins had diabetes mellitus	Muscle ache after physical exercise	N.A.	N.A.	Muscle	30%
Our case	6	M	11 y	MELAS	Grandmother had diabetes mellitus Sister had depression	Stroke-like episodes Visual impairment Muscle weakness Short stature	MRI: multi-focal stroke like lesions		Blood nail saliva hair fibroblasts	22% 31% 37% 26% 35%

urinary urinary sediment, buccal buccal epitheria, MELAS mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, CPEO chronic progressive external ophthalmoplegia, N.A. not available