Table 2.

Disease features of patients.

Patient	Age	Sex	Urinary m.3243A>G mutation load (%)	Clinical features	Baseline clinical scores
					NMDAS	FIS	SF-12 PHC	SF-12 MHC
1a	39	M	80	SNHL, diabetes mellitus, exercise intolerance, ataxia, migraine, GIT, fatigue, hypothyroidism	17	44	38	37
2	58	F	59	SNHL, exercise intolerance, mild ataxia, proximal muscle weakness, GIT, low BMI, myalgia	12	2	56	58
3a	42	M	82	SNHL, diabetes mellitus, exercise intolerance, ataxia, migraine, depression	12	9	50	59
4	47	M	63	SNHL, diabetes mellitus, exercise intolerance, ataxia, proximal and distal muscle weakness, depression, fatigue, myalgia, PEO, ptosis, sensory neuropathy	28	109	23	29
5	37	F	48	SNHL, diabetes mellitus, exercise intolerance, mild ataxia, mild dysarthria, asthma	10	13	52	53
6	38	F	53	SNHL, exercise intolerance, proximal muscle weakness, fatigue, migraine, GIT, asthma	13	29	32	55
7	22	M	89	SNHL, exercise intolerance, ataxia, fatigue, migraine, GIT, low BMI, epilepsy	18	62	40	46
8	36	M	80	Exercise intolerance, migraine	4	9	57	54
9	50	M	87	SNHL, exercise intolerance, ataxia, proximal and distal muscle weakness, fatigue, depression, retinopathy, epilepsy, encephalopathy, cognitive decline, stroke-like episodes	23	68	57	46
10	55	F	68	SNHL, diabetes mellitus, exercise intolerance, ataxia, proximal muscle weakness, GIT, depression, retinopathy, PEO, ptosis, short stature, mild dysphagia, hypertension	25	23	36	49

NMDAS = Newcastle Mitochondrial Disease Adult Scale; M = male; F = female; MIDD = maternally inherited deafness and diabetes; MELAS = mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; FIS = Fatigue Impact Scale; SF-12 = Short Form-12 quality of life questionnaire; PHC = physical health component; MHC = mental health component .

^aSibling.